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Rib fusion

MedGen UID:
78570
Concept ID:
C0265695
Congenital Abnormality
Synonyms: Fused ribs; Rib fusions
SNOMED CT: Congenital fusion of ribs (66102006); Congenital fused ribs (66102006); Bifid ribs (66102006)
 
HPO: HP:0000902

Definition

Complete or partial merging of adjacent ribs. [from HPO]

Conditions with this feature

Poland anomaly
MedGen UID:
10822
Concept ID:
C0032357
Disease or Syndrome
Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by Poland (1841). Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported.
Aicardi syndrome
MedGen UID:
61236
Concept ID:
C0175713
Disease or Syndrome
Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and systemic defects are common, including other brain malformations, optic nerve abnormalities, other seizure types, intellectual disability of varying severity, and scoliosis.
KBG syndrome
MedGen UID:
66317
Concept ID:
C0220687
Disease or Syndrome
KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip), short stature, developmental delay / intellectual disability, and behavioral issues. Affected individuals may have feeding difficulties (particularly in infancy), skeletal anomalies (brachydactyly, large anterior fontanelle with delayed closure, scoliosis), hearing loss (conductive, mixed, and sensorineural), seizure disorder, and brain malformations. There is significant variability in the clinical findings, even between affected members of the same family.
Pallister-Hall syndrome
MedGen UID:
120514
Concept ID:
C0265220
Disease or Syndrome
GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.
Autosomal recessive multiple pterygium syndrome
MedGen UID:
82696
Concept ID:
C0265261
Congenital Abnormality
Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.
Femoral hypoplasia - unusual facies syndrome
MedGen UID:
120523
Concept ID:
C0265263
Disease or Syndrome
Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010).
Baller-Gerold syndrome
MedGen UID:
120532
Concept ID:
C0265308
Disease or Syndrome
Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.
Spondylocostal dysostosis
MedGen UID:
82707
Concept ID:
C0265343
Disease or Syndrome
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.
Spondylocostal dysostosis 2, autosomal recessive
MedGen UID:
332481
Concept ID:
C1837549
Disease or Syndrome
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.
Chromosome 1p36 deletion syndrome
MedGen UID:
334629
Concept ID:
C1842870
Disease or Syndrome
The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003). See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36. See also Radio-Tartaglia syndrome (RATARS; 619312), caused by mutation in the SPEN gene (613484) on chromosome 1p36, which shows overlapping features.
Spondylocostal dysostosis-anal and genitourinary malformations syndrome
MedGen UID:
341373
Concept ID:
C1849069
Congenital Abnormality
Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.
Spondylocostal dysostosis 3, autosomal recessive
MedGen UID:
377871
Concept ID:
C1853296
Disease or Syndrome
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.
Anophthalmia/microphthalmia-esophageal atresia syndrome
MedGen UID:
347232
Concept ID:
C1859773
Disease or Syndrome
The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay / intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements.
4p partial monosomy syndrome
MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).
COG1 congenital disorder of glycosylation
MedGen UID:
443957
Concept ID:
C2931011
Disease or Syndrome
An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
Cardiospondylocarpofacial syndrome
MedGen UID:
444060
Concept ID:
C2931461
Disease or Syndrome
Cardiospondylocarpofacial syndrome (CSCF) is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (summary by Le Goff et al., 2016).
Spondylocostal dysostosis 4, autosomal recessive
MedGen UID:
462292
Concept ID:
C3150942
Disease or Syndrome
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.
Pontine tegmental cap dysplasia
MedGen UID:
762040
Concept ID:
C3541340
Disease or Syndrome
Pontine tegmental cap dysplasia (PTCD) refers to a neurologic condition characterized by a distinct pattern of hindbrain malformations apparent on brain imaging. The abnormalities affect the pons, medulla, and cerebellum. In neuroradiologic studies, the ventral side of the pons is flattened, whereas there is vaulting ('capping') of the dorsal pontine border into the fourth ventricle. Affected individuals show a variety of neurologic deficits, most commonly sensorineural deafness, impaired cranial nerve function, and variable psychomotor retardation (summary by Barth et al., 2007).
ZTTK syndrome
MedGen UID:
934663
Concept ID:
C4310696
Disease or Syndrome
ZTTK syndrome (ZTTKS) is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).
Autosomal recessive Robinow syndrome
MedGen UID:
1770070
Concept ID:
C5399974
Disease or Syndrome
ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
MedGen UID:
1808104
Concept ID:
C5677021
Disease or Syndrome
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter. Facial dysmorphisms include flat face, hypertelorism, epicanthal folds, synophrys, broad nasal bridge, cleft lip and cleft palate, and low-set posteriorly rotated ears. Patients also exhibit short neck and multiple costal and vertebral anomalies. The face is rather characteristic, and various authors have consistently reported affable/friendly personality, despite intellectual delay (summary by Alanay et al., 2014). Genetic Heterogeneity of Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome CFSMR2 (616994) is caused by mutation in the RAB5IF gene (619960) on chromosome 20q11.

Professional guidelines

PubMed

Rogers N, Selberg C, LaMotta C, Beebe C, Bloch N, Erickson M, Donaldson NJ
Orthopedics 2021 Jul-Aug;44(4):e563-e569. Epub 2021 Jul 1 doi: 10.3928/01477447-20210618-18. PMID: 34292816
Liu R, Chen XL, Yang XH, Ma HJ
J Huazhong Univ Sci Technolog Med Sci 2015 Dec;35(6):928-931. Epub 2015 Dec 16 doi: 10.1007/s11596-015-1530-2. PMID: 26670448
Wood KB, Li W, Lebl DR, Ploumis A
Spine J 2014 Jan;14(1):145-64. doi: 10.1016/j.spinee.2012.10.041. PMID: 24332321

Recent clinical studies

Therapy

Borselle D, Grochowski K, Gerus S, Międzybrodzki K, Kołtowski K, Jasińska A, Kamiński A, Patkowski D
J Pediatr Surg 2024 Sep;59(9):1719-1724. Epub 2024 Mar 16 doi: 10.1016/j.jpedsurg.2024.03.023. PMID: 38594136
Lawal TA, Gosemann JH, Kuebler JF, Glüer S, Ure BM
Ann Thorac Surg 2009 Jan;87(1):224-8. doi: 10.1016/j.athoracsur.2008.08.069. PMID: 19101302
Vitale MG, Matsumoto H, Roye DP Jr, Gomez JA, Betz RR, Emans JB, Skaggs DL, Smith JT, Song KM, Campbell RM Jr
J Pediatr Orthop 2008 Mar;28(2):239-43. doi: 10.1097/BPO.0b013e31816521bb. PMID: 18388722
Wong-Chung J, France J, Gillespie R
Spine (Phila Pa 1976) 1992 Jul;17(7):851-4. doi: 10.1097/00007632-199207000-00024. PMID: 1502654
Gilsanz V, Boechat IM, Birnberg FA, King JD
AJR Am J Roentgenol 1983 Sep;141(3):457-60. doi: 10.2214/ajr.141.3.457. PMID: 6603750

Prognosis

Borselle D, Grochowski K, Gerus S, Międzybrodzki K, Kołtowski K, Jasińska A, Kamiński A, Patkowski D
J Pediatr Surg 2024 Sep;59(9):1719-1724. Epub 2024 Mar 16 doi: 10.1016/j.jpedsurg.2024.03.023. PMID: 38594136
McDermott H, Robinson HK, Caswell R, Gowda H, Offiah A, Naik S
Am J Med Genet A 2022 Jan;188(1):298-303. Epub 2021 Sep 24 doi: 10.1002/ajmg.a.62499. PMID: 34558814
Olson JC, Takahashi A, Glotzbecker MP, Snyder BD
PLoS One 2015;10(8):e0136941. Epub 2015 Aug 28 doi: 10.1371/journal.pone.0136941. PMID: 26317230Free PMC Article
Sistonen SJ, Pakarinen MP, Rintala RJ
Pediatr Surg Int 2011 Nov;27(11):1141-9. Epub 2011 Sep 30 doi: 10.1007/s00383-011-2980-7. PMID: 21960312
Lawal TA, Gosemann JH, Kuebler JF, Glüer S, Ure BM
Ann Thorac Surg 2009 Jan;87(1):224-8. doi: 10.1016/j.athoracsur.2008.08.069. PMID: 19101302

Clinical prediction guides

Menezes AH, Traynelis VC
Childs Nerv Syst 2022 Feb;38(2):361-377. Epub 2021 Nov 22 doi: 10.1007/s00381-021-05409-z. PMID: 34806157
McDermott H, Robinson HK, Caswell R, Gowda H, Offiah A, Naik S
Am J Med Genet A 2022 Jan;188(1):298-303. Epub 2021 Sep 24 doi: 10.1002/ajmg.a.62499. PMID: 34558814
Olson JC, Takahashi A, Glotzbecker MP, Snyder BD
PLoS One 2015;10(8):e0136941. Epub 2015 Aug 28 doi: 10.1371/journal.pone.0136941. PMID: 26317230Free PMC Article
Sistonen SJ, Pakarinen MP, Rintala RJ
Pediatr Surg Int 2011 Nov;27(11):1141-9. Epub 2011 Sep 30 doi: 10.1007/s00383-011-2980-7. PMID: 21960312
Vitale MG, Matsumoto H, Roye DP Jr, Gomez JA, Betz RR, Emans JB, Skaggs DL, Smith JT, Song KM, Campbell RM Jr
J Pediatr Orthop 2008 Mar;28(2):239-43. doi: 10.1097/BPO.0b013e31816521bb. PMID: 18388722

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