Melhem-Fahl syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr: 2482
OMIM Id:
ICD-10: Q76.4
UMLs: C2931453
MeSH: C537238
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant vertebral and costal involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
3
 (HPO:0002251) Aganglionic megacolon Frequent [Orphanet] 78 / 7739
4
 (HPO:0000921) Missing ribs Very frequent [Orphanet] 62 / 7739
5
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
6
 (HPO:0003468) Abnormality of the vertebrae Very frequent [Orphanet] 77 / 7739
7
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
8
 (HPO:0001804) Hypoplastic fingernail Frequent [Orphanet] 62 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: