Dysmorphism - conductive hearing loss - heart defect

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 33
OrphanetNr: 289553
OMIM Id: 615102
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000218) High palate 356 / 7739
3
 (HPO:0000520) Proptosis 192 / 7739
4
 (HPO:0000294) Low anterior hairline 52 / 7739
5
 (HPO:0000331) Short chin 33 / 7739
6
 (HPO:0000189) Narrow palate 45 / 7739
7
 (HPO:0002263) Exaggerated cupid's bow 15 / 7739
8
 (HPO:0000175) Cleft palate 349 / 7739
9
 (HPO:0000508) Ptosis 459 / 7739
10
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
11
 (HPO:0000369) Low-set ears 372 / 7739
12
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
13
 (HPO:0010535) Sleep apnea 24 / 7739
14
 (HPO:0001256) Intellectual disability, mild 141 / 7739
15
 (HPO:0001263) Global developmental delay 853 / 7739
16
 (HPO:0002558) Supernumerary nipple 40 / 7739
17
 (HPO:0000774) Narrow chest 167 / 7739
18
 (HPO:0000767) Pectus excavatum 244 / 7739
19
 (HPO:0001561) Polyhydramnios 191 / 7739
20
 (HPO:0001622) Premature birth 100 / 7739
21
 (HPO:0011968) Feeding difficulties 240 / 7739
22
 (HPO:0004322) Short stature 1232 / 7739
23
 (HPO:0100874) Thick hair 7 / 7739
24
 (HPO:0001631) Atria septal defect 274 / 7739
25
 (HPO:0001642) Pulmonic stenosis 89 / 7739
26
 (HPO:0001629) Ventricular septal defect 316 / 7739
27
 (OMIM) Flattened face 1 / 7739
28
 (OMIM) Broad, flat nares 1 / 7739
29
 (OMIM) IUGR 1 / 7739
30
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
31
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
32
 (OMIM) Funnel chest, mild 1 / 7739
33
 (OMIM) Developmental delay, mild 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tyshchenko et al. (2011) reported 3 patients, a mother and daughter and an unrelated male, with a syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal ...