brachytelephalangy-dysmorphism-Kallmann syndrome
Findings
No curated finding names brachytelephalangy-dysmorphism-Kallmann syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.
Definition from the Mondo Disease Ontology (MONDO:0007231), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal metacarpal morphologyHPOHP:0005916
- Very frequent (80% to 99% of cases)
- Abnormal nostril morphologyHPOHP:0005288
- Very frequent (80% to 99% of cases)
- Aplastic/hypoplastic toenailHPOHP:0010624
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
Show the remaining 7
- AnosmiaHPOHP:0000458
- Frequent (30% to 79% of cases)
- Bifid scrotumHPOHP:0000048
- Frequent (30% to 79% of cases)
- Genu valgumHPOHP:0002857
- Frequent (30% to 79% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Frequent (30% to 79% of cases)
- Hypoplasia of penisHPOHP:0008736
- Frequent (30% to 79% of cases)
- Joint stiffnessHPOHP:0001387
- Frequent (30% to 79% of cases)