CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY AND DIGITAL ANOMALIES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 600987
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000202) Oral cleft 120 / 7739
2
(HPO:0000175) Cleft palate 349 / 7739
3
(HPO:0000204) Cleft upper lip 193 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0010055) Broad hallux 56 / 7739
6
(HPO:0009237) Short 5th finger 16 / 7739
7
(HPO:0001852) Sandal gap 63 / 7739
8
(HPO:0004691) 2-3 toe syndactyly 50 / 7739
9
(HPO:0009536) Short 2nd finger 6 / 7739
10
(HPO:0004322) Short stature 1232 / 7739
11
(HPO:0001631) Atria septal defect 274 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Distally-placed thumbs. Short second and fifth fingers. Long and broad first toes. Widely spaced first and second toes. Medial dorsal curvature of fourth toes. Syndactyly of second and third toes. 1 / 7739
14
(OMIM) Congenital heart defect. Atrial septal defect. Fallot pentalogy. 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Percin et al. (1995) reported a family in which members in 3 generations showed various combinations of malformations: congenital heart defect (primum type atrial septal defect in 1 and Fallot pentalogy in another), cleft lip/palate, short stature, microcephaly, ...