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Freeman-Sheldon syndrome(DA2A)

MedGen UID:
120516
Concept ID:
C0265224
Disease or Syndrome
Synonyms: Arthrogryposis, Distal, Type 2A; Arthrogryposis, distal, type 2A (Freeman-Sheldon); Craniocarpotarsal dysplasia; Craniocarpotarsal dystrophy; DA2A; Whistling face-windmill vane hand syndrome
SNOMED CT: Distal arthrogryposis type 2A (52616002); Freeman-Sheldon syndrome (52616002); Whistling face syndrome (52616002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): MYH3 (17p13.1)
 
Monarch Initiative: MONDO:0008675
OMIM®: 193700
Orphanet: ORPHA2053

Definition

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120). [from OMIM]

Additional description

From MedlinePlus Genetics
Freeman-Sheldon syndrome (also known as Freeman-Burian syndrome) is a condition that primarily affects muscles in the face and skull (craniofacial muscles) and can often affect joints in the hands and feet. The condition is characterized by abnormalities known as contractures, which result from permanent tightening of muscles, skin, tendons, and surrounding tissues, and restrict movement of the affected body part. In Freeman-Sheldon syndrome, contractures in the face lead to a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of whistling. For this reason, Freeman-Sheldon syndrome is sometimes called "whistling face syndrome." Other facial features common in this condition include a chin dimple shaped like an "H" or "V" and unusually deep folds in the skin between the nose and the corners of the mouth (nasolabial folds).

People with Freeman-Sheldon syndrome may also have a variety of other facial features, such as a prominent forehead and brow ridges, a sunken appearance of the middle of the face (midface hypoplasia), a short nose, a long area between the nose and mouth (philtrum), and full cheeks. Affected individuals may have a number of abnormalities that affect the eyes. These features can include widely spaced eyes (hypertelorism), deep-set eyes, outside corners of the eyes that point downward (down-slanting palpebral fissures), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and eyes that do not look in the same direction (strabismus).

Other features that can occur in Freeman-Sheldon syndrome include an unusually small tongue (microglossia) and jaw (micrognathia) and a high arch in the roof of the mouth (high-arched palate). People with Freeman-Sheldon syndrome may have difficulty swallowing (dysphagia), a failure to gain weight and grow at the expected rate (failure to thrive), and breathing complications that may be life-threatening. Speech problems or hearing impairment can also occur in people with this disorder.

In people with Freeman-Sheldon syndrome, contractures in the hands and feet can lead to permanently bent fingers and toes (camptodactyly), a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation, also called "windmill vane hand"), and inward- and downward-turning feet (clubfoot). Less commonly, contractures affect the hips, knees, shoulders, or elbows.

People with Freeman-Sheldon syndrome may also have abnormalities of the spine, ribs, or chest. Many affected individuals have abnormal side-to-side or front-to-back curvature of the spine (scoliosis or kyphosis) or an abnormally curved lower back (lordosis). In many affected individuals, the muscles between the ribs do not function properly, which can impair breathing or coughing. The ribs or breastbone (sternum) may be abnormally shaped in people with this condition.

Intelligence is unaffected in most people with Freeman-Sheldon syndrome, but development of normal milestones may be delayed due to physical abnormalities.  https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Congenital vertical talus
MedGen UID:
66821
Concept ID:
C0240912
Congenital Abnormality
Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
Thumbs, congenital Clasped
MedGen UID:
98140
Concept ID:
C0431886
Congenital Abnormality
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Flexion contracture of toe
MedGen UID:
237248
Concept ID:
C1406835
Finding
One or more bent (flexed) toe joints that cannot be straightened actively or passively.
Ulnar deviation of the hand or of fingers of the hand
MedGen UID:
892857
Concept ID:
C4048199
Finding
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Spina bifida occulta
MedGen UID:
36380
Concept ID:
C0080174
Congenital Abnormality
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Abnormal auditory evoked potentials
MedGen UID:
141758
Concept ID:
C0522216
Finding
An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Hypoplasia of the brainstem
MedGen UID:
334226
Concept ID:
C1842688
Finding
Underdevelopment of the brainstem.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Joint dislocation
MedGen UID:
41614
Concept ID:
C0012691
Injury or Poisoning
Displacement or malalignment of joints.
Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Hernia
MedGen UID:
6816
Concept ID:
C0019270
Finding
The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Shoulder flexion contracture
MedGen UID:
592333
Concept ID:
C0409336
Acquired Abnormality
Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
Wrist flexion contracture
MedGen UID:
592338
Concept ID:
C0409345
Acquired Abnormality
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Flexion contracture of finger
MedGen UID:
387792
Concept ID:
C1857304
Finding
Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Malignant hyperthermia
MedGen UID:
1830388
Concept ID:
C5779784
Pathologic Function
Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.
Hypernasal speech
MedGen UID:
107884
Concept ID:
C0566620
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Dental crowding
MedGen UID:
11850
Concept ID:
C0040433
Finding
Changes in alignment of teeth in the dental arch
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Telecanthus
MedGen UID:
140836
Concept ID:
C0423113
Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Mask-like facies
MedGen UID:
140860
Concept ID:
C0424448
Finding
A lack of facial expression often with staring eyes and a slightly open mouth.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Pursed lips
MedGen UID:
371254
Concept ID:
C1832130
Finding
An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.
Underdeveloped nasal alae
MedGen UID:
322332
Concept ID:
C1834055
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Whistling appearance
MedGen UID:
338478
Concept ID:
C1848473
Finding
An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Absence of concavity or convexity of the face when viewed in profile.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Chin with H-shaped crease
MedGen UID:
348588
Concept ID:
C1860309
Anatomical Abnormality
H-shaped crease in the fat pad of the chin.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Neck joint contracture
MedGen UID:
357889
Concept ID:
C1867006
Anatomical Abnormality
Dimple chin
MedGen UID:
1370532
Concept ID:
C4317152
Anatomical Abnormality
A persistent midline depression of the skin over the fat pad of the chin.
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.
Breech presentation
MedGen UID:
654
Concept ID:
C0006157
Pathologic Function
A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
An abnormal reduction in quantity or strength of fetal movements.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFreeman-Sheldon syndrome
Follow this link to review classifications for Freeman-Sheldon syndrome in Orphanet.

Professional guidelines

PubMed

Poling MI, Dufresne CR
Syst Rev 2019 May 27;8(1):127. doi: 10.1186/s13643-019-1045-1. PMID: 31133050Free PMC Article
Drury S, Williams H, Trump N, Boustred C; GOSGene, Lench N, Scott RH, Chitty LS
Prenat Diagn 2015 Oct;35(10):1010-7. Epub 2015 Sep 11 doi: 10.1002/pd.4675. PMID: 26275891
Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ
Am J Med Genet A 2014 Nov;164A(11):2808-13. Epub 2014 Sep 25 doi: 10.1002/ajmg.a.36762. PMID: 25256237

Recent clinical studies

Etiology

Bowman S, Noble G, Rahmani B, Mets M, Ralay Ranaivo H, Castelluccio V
Ophthalmic Genet 2022 Feb;43(1):130-133. Epub 2021 Oct 19 doi: 10.1080/13816810.2021.1989603. PMID: 34664542
Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V
Am J Med Genet A 2018 Mar;176(3):663-667. Epub 2018 Jan 5 doi: 10.1002/ajmg.a.38593. PMID: 29314551
Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ
Am J Med Genet A 2014 Nov;164A(11):2808-13. Epub 2014 Sep 25 doi: 10.1002/ajmg.a.36762. PMID: 25256237
Sadrimanesh R, Hassani A, Vahdati SA, Chaghari H, Sadr-Eshkevari P, Rashad A
J Craniomaxillofac Surg 2013 Jul;41(5):397-402. Epub 2012 Dec 4 doi: 10.1016/j.jcms.2012.11.004. PMID: 23218872
Hall JG, Reed SD, Greene G
Am J Med Genet 1982 Feb;11(2):185-239. doi: 10.1002/ajmg.1320110208. PMID: 7039311

Diagnosis

Heinze K, Akella SS, Setabutr P
Ophthalmic Plast Reconstr Surg 2023 Jan-Feb 01;39(1):e28. Epub 2022 Jun 3 doi: 10.1097/IOP.0000000000002207. PMID: 35657657
Bowman S, Noble G, Rahmani B, Mets M, Ralay Ranaivo H, Castelluccio V
Ophthalmic Genet 2022 Feb;43(1):130-133. Epub 2021 Oct 19 doi: 10.1080/13816810.2021.1989603. PMID: 34664542
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ
Am J Med Genet A 2014 Nov;164A(11):2808-13. Epub 2014 Sep 25 doi: 10.1002/ajmg.a.36762. PMID: 25256237
Toydemir RM, Bamshad MJ
Orphanet J Rare Dis 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. PMID: 19309503Free PMC Article

Therapy

Poling MI, Dufresne CR
Syst Rev 2019 May 27;8(1):127. doi: 10.1186/s13643-019-1045-1. PMID: 31133050Free PMC Article
Poling MI, Morales Corado JA, Chamberlain RL
Syst Rev 2017 Mar 6;6(1):46. doi: 10.1186/s13643-017-0444-4. PMID: 28264711Free PMC Article
Ma LL, Zhang XH, Huang YG, Zhang QX
Chin Med J (Engl) 2012 Jan;125(2):390-1. PMID: 22340578
Corrigan LA, Duncan CA, Gregg TA
Int J Paediatr Dent 2006 Nov;16(6):440-3. doi: 10.1111/j.1365-263X.2006.00742.x. PMID: 17014544
Munro HM, Butler PJ, Washington EJ
Paediatr Anaesth 1997;7(4):345-8. doi: 10.1046/j.1460-9592.1997.d01-90.x. PMID: 9243695

Prognosis

Fisher K, Qasem F, Armstrong P, McConachie I
Int J Obstet Anesth 2016 Aug;27:81-4. Epub 2016 Feb 11 doi: 10.1016/j.ijoa.2016.02.001. PMID: 27016877
Sadrimanesh R, Hassani A, Vahdati SA, Chaghari H, Sadr-Eshkevari P, Rashad A
J Craniomaxillofac Surg 2013 Jul;41(5):397-402. Epub 2012 Dec 4 doi: 10.1016/j.jcms.2012.11.004. PMID: 23218872
Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ
Nat Genet 2006 May;38(5):561-5. Epub 2006 Apr 16 doi: 10.1038/ng1775. PMID: 16642020
Zampino G, Conti G, Balducci F, Moschini M, Macchiaiolo M, Mastroiacovo P
Am J Med Genet 1996 Mar 29;62(3):293-6. doi: 10.1002/(SICI)1096-8628(19960329)62:3<293::AID-AJMG17>3.0.CO;2-F. PMID: 8882790
Hall JG, Reed SD, Greene G
Am J Med Genet 1982 Feb;11(2):185-239. doi: 10.1002/ajmg.1320110208. PMID: 7039311

Clinical prediction guides

Bowman S, Noble G, Rahmani B, Mets M, Ralay Ranaivo H, Castelluccio V
Ophthalmic Genet 2022 Feb;43(1):130-133. Epub 2021 Oct 19 doi: 10.1080/13816810.2021.1989603. PMID: 34664542
Das S, Kumar P, Verma A, Maiti TK, Mathew SJ
Dev Biol 2019 May 15;449(2):90-98. Epub 2019 Feb 28 doi: 10.1016/j.ydbio.2019.02.017. PMID: 30826400Free PMC Article
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V
Am J Med Genet A 2018 Mar;176(3):663-667. Epub 2018 Jan 5 doi: 10.1002/ajmg.a.38593. PMID: 29314551
Krakowiak PA, O'Quinn JR, Bohnsack JF, Watkins WS, Carey JC, Jorde LB, Bamshad M
Am J Hum Genet 1997 Feb;60(2):426-32. PMID: 9012416Free PMC Article

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