BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION

General Information (adopted from Orphanet):

Synonyms, Signs: TSUKAHARA SYNDROME
Number of Symptoms 24
OrphanetNr:
OMIM Id: 613627
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:0000414) Bulbous nose 63 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
4
(HPO:0000286) Epicanthus 371 / 7739
5
(HPO:0000508) Ptosis 459 / 7739
6
(HPO:0000389) Chronic otitis media 64 / 7739
7
(HPO:0000410) Mixed hearing impairment 22 / 7739
8
(HPO:0001249) Intellectual disability 1089 / 7739
9
(HPO:0010241) Short proximal phalanx of finger 4 / 7739
10
(HPO:0002650) Scoliosis 705 / 7739
11
(HPO:0010743) Short metatarsal 56 / 7739
12
(HPO:0001156) Brachydactyly syndrome 180 / 7739
13
(HPO:0005819) Short middle phalanx of finger 28 / 7739
14
(HPO:0009638) Short proximal phalanx of thumb 4 / 7739
15
(HPO:0001991) Aplasia/Hypoplasia of toe 2 / 7739
16
(HPO:0004322) Short stature 1232 / 7739
17
(HPO:0001792) Small nail 55 / 7739
18
(OMIM) Short middle phalanges of second through fifth fingers 1 / 7739
19
(OMIM) Short and hypoplastic metatarsals and phalanges of the great toes 1 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
(OMIM) Sandal-toe gap between great and second toe 1 / 7739
22
(OMIM) Symphalangism between middle and distal phalanges of second through fifth toes 1 / 7739
23
(OMIM) Symphalangism of middle and distal phalanges of fifth finger 1 / 7739
24
(OMIM) Shortening of long bones 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tsukahara et al. (1989) reported a 14-year-old girl, born of second-cousin parents, who had type A1 brachydactyly (see 112500) associated with minor skeletal abnormalities and dwarfism, thoracic scoliosis, mixed partial hearing loss, microcephaly, and mental retardation. Facial features ...