Heart defect - round face - congenital developmental delay

General Information (adopted from Orphanet):

Synonyms, Signs: ROUND FACE WITH DEPRESSED NASAL BRIDGE AND SMALL MOUTH, CONGENITAL HEART DEFECT, AND RETARDED DEVELOPMENT
Sonoda syndrome
Number of Symptoms 19
OrphanetNr: 1355
OMIM Id: 270460
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

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

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
2
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
3
 (HPO:0000163) Abnormality of the oral cavity Very frequent [Orphanet] 37 / 7739
4
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
5
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
8
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0001042) High axial triradius 4 / 7739
11
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
 (HPO:0000953) Hyperpigmentation of the skin Very frequent [Orphanet] 75 / 7739
13
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
14
 (HPO:0005599) Hypopigmentation of hair Very frequent [Orphanet] 38 / 7739
15
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
16
 (HPO:0001629) Ventricular septal defect 316 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Pulmonary valvular stenosis 4 / 7739
19
 (OMIM) Dark skin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among the children of presumably unrelated parents who, however, came from lines that had been located in a rather small town for a long time, Sonoda et al. (1988) described 2 boys and a girl with a syndrome ...