Brain malformation - congenital heart disease - postaxial polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: Goossens-Devriendt syndrome
Number of Symptoms 21
OrphanetNr: 75389
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Rare syndrome with cardiac malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
2
(HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
3
(HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
4
(HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
5
(HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
6
(HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
7
(HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
8
(HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
9
(HPO:0000864) Abnormality of the hypothalamus-pituitary axis Very frequent [Orphanet] 23 / 7739
10
(HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
11
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
(HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
13
(HPO:0002208) Coarse hair Frequent [Orphanet] 58 / 7739
14
(HPO:0002299) Brittle hair Frequent [Orphanet] 52 / 7739
15
(HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
16
(HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
17
(HPO:0001629) Ventricular septal defect Very frequent [Orphanet] 316 / 7739
18
(HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
19
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
20
(HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
21
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: