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Congenital pseudoarthrosis of clavicle

MedGen UID:
Concept ID:
Congenital Abnormality
Synonym: Congenital pseudoarthrosis of the clavicle
SNOMED CT: Congenital pseudoarthrosis of clavicle (70794004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
Concept ID:
Source: Orphanet
clinical entity without genetic inheritance.
HPO: HP:0006585
Monarch Initiative: MONDO:0007330
OMIM®: 118980
Orphanet: ORPHA66630


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. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital pseudoarthrosis of clavicle
Follow this link to review classifications for Congenital pseudoarthrosis of clavicle in Orphanet.

Conditions with this feature

Craniofrontonasal syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004).
Schinzel phocomelia syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
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).
Restrictive dermopathy 1
MedGen UID:
Concept ID:
Disease or Syndrome
A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
Cleidocranial dysplasia 2
MedGen UID:
Concept ID:
Disease or Syndrome
Cleidocranial dysplasia-2 (CLCD2) is characterized by clavicular anomalies, ranging from unilateral 'clavicula bipartita' to bilateral clavicular aplasia, and dental anomalies, including delayed or absent eruption of deciduous teeth and supernumerary teeth. Skull abnormalities such as delayed closure of fontanels have been reported; other skeletal features include delayed bone age, short distal phalanges, and pseudoepiphyses of the metacarpals and/or metatarsals. Phenotypic variability, including intrafamilial, has been observed (Beyltjens et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of cleidocranial dysplasia, see CLCD1 (119600).

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