Temtamy preaxial brachydactyly syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
TPBS
Number of Symptoms 34
OrphanetNr: 363417
OMIM Id: 605282
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with deafness as a major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Congenital disorder of glycosylation-related bone disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Disorder of O-xylosylglycan synthesis
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
2
 (HPO:0000699) Diastema 10 / 7739
3
 (HPO:0000664) Synophrys 112 / 7739
4
 (HPO:0011087) Talon cusp 2 / 7739
5
 (HPO:0002553) Highly arched eyebrow 92 / 7739
6
 (HPO:0000691) Microdontia 104 / 7739
7
 (HPO:0002002) Deep philtrum 42 / 7739
8
 (HPO:0000592) Blue sclerae rare [HPO:skoehler] 85 / 7739
9
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
10
 (HPO:0008619) Bilateral sensorineural hearing impairment 23 / 7739
11
 (HPO:0002974) Radioulnar synostosis rare [HPO:skoehler] 52 / 7739
12
 (HPO:0010743) Short metatarsal 56 / 7739
13
 (HPO:0001159) Syndactyly 140 / 7739
14
 (HPO:0008368) Tarsal synostosis 21 / 7739
15
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
16
 (HPO:0010049) Short metacarpal 99 / 7739
17
 (HPO:0005037) Proximal radio-ulnar synostosis 6 / 7739
18
 (HPO:0001234) Hitchhiker thumb 5 / 7739
19
 (HPO:0009702) Carpal synostosis 26 / 7739
20
 (OMIM) Short abducted thumbs 3 / 7739
21
 (OMIM) Tilted optic discs (in some patients) 1 / 7739
22
 (OMIM) Narrow lower alveolar ridge 1 / 7739
23
 (OMIM) Phalangeal duplication 1 / 7739
24
 (OMIM) Hyperphalangism 1 / 7739
25
 (OMIM) Wide-eye appearance 1 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (OMIM) Lateral deviation of the halluces 1 / 7739
28
 (OMIM) Lobulated anterior palatine rugae (rare) 1 / 7739
29
 (MedDRA:10058668) Clinodactyly 91 / 7739
30
 (OMIM) Functional symphalangism 1 / 7739
31
 (OMIM) Preaxial brachydactyly 1 / 7739
32
 (OMIM) Midline diastema 1 / 7739
33
 (OMIM) Macrophthalmia 2 / 7739
34
 (OMIM) Soft tissue syndactyly 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Temtamy et al. (1998) described a 10-year-old Egyptian boy with a syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form ...
Molecular genetics OMIM In 5 consanguineous families with Temtamy preaxial brachydactyly syndrome (TPBS), including the Egyptian family originally described by Temtamy et al. (1998) and 2 TPBS families from Sri Lanka and Pakistan that were previously reported by Race et al. ...