Brachydactyly - arterial hypertension

General Information (adopted from Orphanet):

Synonyms, Signs: BRACHYDACTYLY WITH HYPERTENSION
BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION
BILGINTURAN SYNDROME
HTNB
Number of Symptoms 11
OrphanetNr: 1276
OMIM Id: 112410
ICD-10: I10
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 10 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hypertension
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare renal disease
Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
2
(HPO:0010049) Short metacarpal 99 / 7739
3
(HPO:0001156) Brachydactyly syndrome 180 / 7739
4
(HPO:0010579) Cone-shaped epiphysis rare [HPO:skoehler] 54 / 7739
5
(HPO:0009803) Short phalanx of finger 79 / 7739
6
(HPO:0001167) Abnormality of finger Very frequent [Orphanet] 29 / 7739
7
(HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
8
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
9
(HPO:0000822) Hypertension Very frequent [Orphanet] 224 / 7739
10
(MedDRA:10072883) Brachydactyly 153 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bilginturan et al. (1973) described a 'new' form of brachydactyly manifested by shortening of both phalanges and metacarpals and associated, probably as a pleiotropic effect, with hypertension. An extensive pedigree was well documented.

Schuster et al. ...

Molecular genetics OMIM In 4 families and 1 individual with hypertension and brachydactyly, including the Turkish family originally reported by Bilginturan et al. (1973) and the 2 families previously described by Chitayat et al. (1997), from the United States and Canada, ...