TEMPLE-BARAITSER SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, SEVERE, AND ABSENT NAILS OF HALLUX AND POLLEX
Number of Symptoms 35
OrphanetNr:
OMIM Id: 611816
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002058) Myopathic facies 26 / 7739
2
(HPO:0000316) Hypertelorism 644 / 7739
3
(HPO:0000343) Long philtrum 262 / 7739
4
(HPO:0000154) Wide mouth 137 / 7739
5
(HPO:0009928) Thick nasal alae 21 / 7739
6
(HPO:0005280) Depressed nasal bridge 381 / 7739
7
(HPO:0002714) Downturned corners of mouth 98 / 7739
8
(HPO:0004425) Flat forehead 6 / 7739
9
(HPO:0000445) Wide nose 190 / 7739
10
(HPO:0000286) Epicanthus 371 / 7739
11
(HPO:0006887) Intellectual disability, progressive 68 / 7739
12
(HPO:0001263) Global developmental delay 853 / 7739
13
(HPO:0001250) Seizures 1245 / 7739
14
(HPO:0010864) Intellectual disability, severe 120 / 7739
15
(HPO:0009882) Short distal phalanx of finger 125 / 7739
16
(HPO:0009693) Pseudoepiphysis of the thumb 1 / 7739
17
(HPO:0011304) Broad thumb 39 / 7739
18
(HPO:0010055) Broad hallux 56 / 7739
19
(HPO:0001181) Adducted thumb 31 / 7739
20
(HPO:0012555) Absent nail of hallux 1 / 7739
21
(HPO:0012553) Hypoplastic thumbnail 1 / 7739
22
(HPO:0001252) Muscular hypotonia 990 / 7739
23
(HPO:0010547) Muscle flaccidity 466 / 7739
24
(HPO:0001324) Muscle weakness 859 / 7739
25
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
26
(OMIM) Proximal implantation of thumb 1 / 7739
27
(OMIM) Hypoplastic thumb nails 1 / 7739
28
(OMIM) Pseudoepiphysis of the thumb 1 / 7739
29
(OMIM) Absent nails of halluces 1 / 7739
30
(OMIM) Hypoplasia of terminal phalanges 1 / 7739
31
(OMIM) Thick vermilion border of the upper lip 1 / 7739
32
(OMIM) Broad halluces 12 / 7739
33
(OMIM) Central translucency of distal phalanges of thumbs 1 / 7739
34
(OMIM) Long great toes 1 / 7739
35
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Various dysmorphic facial features have been reported (summary by ...
Clinical Description OMIM Temple and Baraitser (1991) reported a 3.5-year-old boy, born of nonconsanguineous Iranian parents, with a severe mental retardation syndrome characterized by hypotonia, seizures, and generalized cerebral atrophy. He had a low frontal hairline with central cowlick, mild hypertelorism, ...