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Schinzel phocomelia syndrome(LPHAS; AARRS)

MedGen UID:
336388
Concept ID:
C1848651
Disease or Syndrome
Synonyms: Absence of ulna and fibula with severe limb deficiency; AL-AWADI/RAAS-ROTHSCHILD SYNDROME; Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome; LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME; Phocomelia, Schinzel type
SNOMED CT: Phocomelia Schinzel type (715522000); Al Awadi-Raas-Rothschild syndrome (715522000); Schinzel phocomelia syndrome (715522000)
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).
 
Gene (location): WNT7A (3p25.1)
 
Monarch Initiative: MONDO:0010164
OMIM®: 276820
Orphanet: ORPHA2879

Definition

The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010). [from OMIM]

Clinical features

From HPO
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).
Aplasia of the uterus
MedGen UID:
98421
Concept ID:
C0425913
Finding
Aplasia of the uterus.
Small scrotum
MedGen UID:
141577
Concept ID:
C0455792
Finding
Apparently small scrotum for age.
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Anteriorly displaced genitalia
MedGen UID:
341276
Concept ID:
C1848653
Finding
Hypoplasia of the radius
MedGen UID:
672334
Concept ID:
C0685381
Congenital Abnormality
Underdevelopment of the radius.
Fibular aplasia
MedGen UID:
373034
Concept ID:
C1836186
Finding
Absence of the fibula.
Aplasia/Hypoplasia involving the metacarpal bones
MedGen UID:
322855
Concept ID:
C1836192
Finding
Aplasia or Hypoplasia affecting the metacarpal bones.
Carpal bone aplasia
MedGen UID:
324464
Concept ID:
C1836219
Finding
Congenital absence of a carpal bone.
Aplasia/Hypoplasia of the phalanges of the hand
MedGen UID:
341279
Concept ID:
C1848670
Finding
Small or missing phalangeal bones of the fingers of the hand.
Aplasia/Hypoplasia of the tarsal bones
MedGen UID:
376414
Concept ID:
C1848671
Finding
Absence or underdevelopment of the tarsal bones.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Aplasia/hypoplasia of the femur
MedGen UID:
376994
Concept ID:
C1851310
Finding
Absence or underdevelopment of the femur.
Radial bowing
MedGen UID:
347136
Concept ID:
C1859399
Anatomical Abnormality
A bending or abnormal curvature of the radius.
Aplasia/Hypoplasia of metatarsal bones
MedGen UID:
348560
Concept ID:
C1860182
Finding
Absence or underdevelopment of the metatarsal bones.
Aplasia of the ulna
MedGen UID:
394508
Concept ID:
C2678397
Finding
Missing ulna bone associated with congenital failure of development.
Split hand
MedGen UID:
397570
Concept ID:
C2699510
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Humeroradial synostosis
MedGen UID:
418931
Concept ID:
C2930865
Disease or Syndrome
An abnormal osseous union (fusion) between the radius and the humerus.
Aplasia/Hypoplasia of the phalanges of the toes
MedGen UID:
869559
Concept ID:
C4023987
Finding
Aplasia/Hypoplasia involving the carpal bones
MedGen UID:
870584
Concept ID:
C4025033
Finding
Absence or underdevelopment of the carpal bones.
Foot oligodactyly
MedGen UID:
923973
Concept ID:
C4281601
Anatomical Abnormality
A developmental defect resulting in the presence of fewer than the normal number of toes.
Aplasia/hypoplasia of the extremities
MedGen UID:
1635318
Concept ID:
C4551464
Congenital Abnormality
Absence (due to failure to form) or underdevelopment of the extremities.
Finger aplasia
MedGen UID:
1841564
Concept ID:
C5779506
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).
Disproportionate short stature
MedGen UID:
168053
Concept ID:
C0878659
Finding
A kind of short stature in which different regions of the body are shortened to differing extents.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Abnormal pinna morphology
MedGen UID:
167800
Concept ID:
C0857379
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Long ear
MedGen UID:
338515
Concept ID:
C1848657
Finding
Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.
Occipital meningocele
MedGen UID:
336389
Concept ID:
C1848652
Disease or Syndrome
A herniation of meninges through a congenital bone defect in the skull in the occipital region.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Phocomelia
MedGen UID:
10721
Concept ID:
C0031575
Congenital Abnormality
Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Cyst - pilonidal
MedGen UID:
19314
Concept ID:
C0031925
Disease or Syndrome
A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Barrel-shaped chest
MedGen UID:
120497
Concept ID:
C0264172
Finding
A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
Congenital pseudoarthrosis of clavicle
MedGen UID:
75577
Concept ID:
C0265565
Congenital Abnormality
The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
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.
Elbow ankylosis
MedGen UID:
592439
Concept ID:
C0409477
Disease or Syndrome
Broad clavicles
MedGen UID:
98091
Concept ID:
C0426801
Finding
Increased width (cross-sectional diameter) of the clavicles.
Decreased calvarial ossification
MedGen UID:
322270
Concept ID:
C1833762
Finding
Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).
Prominent sternum
MedGen UID:
337578
Concept ID:
C1846433
Finding
Broad ribs
MedGen UID:
336390
Concept ID:
C1848654
Finding
Increased width of ribs
Aplastic pubic bone
MedGen UID:
338517
Concept ID:
C1848660
Congenital Abnormality
A developmental defect characterized by lack of development of the pubis bone.
Aplasia/Hypoplasia of the pubic bone
MedGen UID:
338651
Concept ID:
C1849305
Finding
Absence or underdevelopment of the pubic bone.
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
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).
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).
Narrow palate
MedGen UID:
278045
Concept ID:
C1398312
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Broad neck
MedGen UID:
344099
Concept ID:
C1853638
Finding
Increased side-to-side width of the neck.
Anonychia
MedGen UID:
120563
Concept ID:
C0265998
Congenital Abnormality
Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).
Hypoplastic nipples
MedGen UID:
98156
Concept ID:
C0432355
Congenital Abnormality
Underdevelopment of the nipple.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSchinzel phocomelia syndrome
Follow this link to review classifications for Schinzel phocomelia syndrome in Orphanet.

Professional guidelines

PubMed

Ceylaner S, Ceylaner G, Altun M, Coşkun A, Danisman N
Genet Couns 2009;20(2):189-93. PMID: 19650417

Recent clinical studies

Diagnosis

AlQattan MM, AlAbdulkareem I, Ballow M, Al Balwi M
Gene 2013 Sep 15;527(1):371-5. Epub 2013 May 30 doi: 10.1016/j.gene.2013.05.023. PMID: 23727605
Ceylaner S, Ceylaner G, Altun M, Coşkun A, Danisman N
Genet Couns 2009;20(2):189-93. PMID: 19650417
Olney RS, Hoyme HE, Roche F, Ferguson K, Hintz S, Madan A
Am J Med Genet 2001 Nov 1;103(4):295-301. PMID: 11746009

Clinical prediction guides

Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S
Am J Hum Genet 2006 Aug;79(2):402-8. Epub 2006 Jun 23 doi: 10.1086/506332. PMID: 16826533Free PMC Article

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