Genito-palato-cardiac syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MALE PSEUDOHERMAPHRODITISM WITH MICROGNATHIA, CLEFT PALATE, AND CONOTRUNCAL CARDIAC DEFECT
gardner-silengo-wachtel syndrome
Number of Symptoms 38
OrphanetNr: 2075
OMIM Id: 231060
ICD-10: Q87.8
UMLs: C1856466
MeSH: C537683
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
2
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
3
 (HPO:0001629) Ventricular septal defect 316 / 7739
4
 (HPO:0001719) Double outlet right ventricle 12 / 7739
5
 (HPO:0004760) Congenital septal defect Very frequent [Orphanet] 69 / 7739
6
 (HPO:0001669) Transposition of the great arteries 36 / 7739
7
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
8
 (HPO:0001162) Postaxial hand polydactyly Occasional [Orphanet] 119 / 7739
9
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
10
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
11
 (HPO:0000347) Micrognathia 426 / 7739
12
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
13
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
14
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
15
 (HPO:0005264) Abnormality of the gallbladder Occasional [Orphanet] 14 / 7739
16
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
17
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
18
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
19
 (HPO:0000037) Male pseudohermaphroditism Very frequent [Orphanet] 25 / 7739
20
 (HPO:0008668) Gonadal dysgenesis, male 3 / 7739
21
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
22
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
23
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
24
 (HPO:0000175) Cleft palate 349 / 7739
25
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
26
 (HPO:0002714) Downturned corners of mouth Occasional [Orphanet] 98 / 7739
27
 (HPO:0000202) Oral cleft 120 / 7739
28
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 290 / 7739
29
 (HPO:0100016) Abnormality of mesentery morphology Occasional [Orphanet] 7 / 7739
30
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
31
 (HPO:0000369) Low-set ears 372 / 7739
32
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
33
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
34
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
35
 (HPO:0012020) Right aortic arch 9 / 7739
36
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
38
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Greenberg et al. (1987) reported the cases of 2 sib fetuses with similar abnormalities detected prenatally by ultrasound. The first fetus had micrognathia, low-set ears, double outlet right ventricle with a ventricular septal defect and 46,XY gonadal dysgenesis. ...