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Cleidocranial dysplasia, recessive form

MedGen UID:
395170
•Concept ID:
C1859080
•
Disease or Syndrome
Synonym: Autosomal recessive form of cleidocranial dysostosis
 
Monarch Initiative: MONDO:0008994
OMIM®: 216330

Clinical features

From HPO
Severe short stature
MedGen UID:
3931
•Concept ID:
C0013336
•
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
See: Feature record | Search on this feature
Brachycephaly
MedGen UID:
113165
•Concept ID:
C0221356
•
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
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Recent clinical studies

Diagnosis

The presence of germ line mosaicism in cleidocranial dysplasia.
Pal T, Napierala D, Becker TA, Loscalzo M, Baldridge D, Lee B, Sutphen R
Clin Genet 2007 Jun;71(6):589-91. doi: 10.1111/j.1399-0004.2007.00812.x. PMID: 17539909

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      Related Medical Subject Headings
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