Atrioventricular defect - blepharophimosis -radial defects

General Information (adopted from Orphanet):

Synonyms, Signs: Houlston-Ironton-Temple syndrome
Number of Symptoms 38
OrphanetNr: 1352
OMIM Id: 600123
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: 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
Ptosis
 -Rare eye disease
 -Rare genetic disease
Rare syndrome with cardiac malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
2
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
3
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0000568) Microphthalmia 183 / 7739
6
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
7
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
8
 (HPO:0000431) Wide nasal bridge 290 / 7739
9
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
10
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
11
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
12
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
13
 (HPO:0001107) Ocular albinism Very frequent [Orphanet] 40 / 7739
14
 (HPO:0000378) Cupped ear 34 / 7739
15
 (HPO:0011266) Microtia, first degree 4 / 7739
16
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
17
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
18
 (HPO:0001263) Global developmental delay 853 / 7739
19
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
20
 (HPO:0010035) Aplasia of the 1st metacarpal 1 / 7739
21
 (HPO:0003974) Absent radius 26 / 7739
22
 (HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
23
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
24
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
25
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
26
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
27
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
28
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
29
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
30
 (HPO:0001545) Anteriorly placed anus Frequent [Orphanet] 55 / 7739
31
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
32
 (HPO:0001631) Atria septal defect 274 / 7739
33
 (HPO:0001636) Tetralogy of Fallot Frequent [Orphanet] 104 / 7739
34
 (HPO:0006695) Atrioventricular canal defect 27 / 7739
35
 (HPO:0004760) Congenital septal defect Very frequent [Orphanet] 69 / 7739
36
 (HPO:0001629) Ventricular septal defect 316 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
38
 (OMIM) Small, simple ears 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: