Brachytelephalangy-dysmorphism-Kallmann syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- historical
A rare 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, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachytelephalangy-dysmorphism-Kallmann syndrome | |
| fr | Syndrome de brachytéléphalangie-dysmorphie-syndrome de Kallman | |
| de | Brachytelephalangie mit Dysmorphien und Kallmann-Syndrom | |
| es | Braquitelefalangia-dismorfia-síndrome de Kallmann | |
| it | Brachitelefalangia - dismorfismi - sindrome di Kallmann | |
| nl | Brachytelefalangie - dysmorfie - syndroom van Kallmann-syndroom | |
| pt | Braquitelefalangia-dismorfia-síndrome de Kallman | |
| pl | Skrócenie paliczków dalszych - dysmorfizm - zespół Kallmanna | |
| cs | Brachytelefalangie, dysmorfismus a Kallmannův syndrom | |
| uk | Синдром брахітелефалангічного дизморфізму-Калльмана | |
| zh | 末节指骨短小-外貌畸形-卡尔曼氏综合征 | |
| tr | Brakitelahalanji-dismorphizm-Kallmann sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113480 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0007231 | E | validated | |
| UMLS | C4303989 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3728571[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3728571[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0005288 | Abnormality of the nares | |
| HP:0010624 | Aplastic/hypoplastic toenail | |
| HP:0001156 | Brachydactyly | |
| HP:0000337 | Broad forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0003196 | Short nose | |
| HP:0000506 | Telecanthus | |
| HP:0000219 | Thin upper lip vermilion | |
| Frequent (79-30%) | ||
| HP:0000458 | Anosmia | |
| HP:0000048 | Bifid scrotum | |
| HP:0002857 | Genu valgum | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001387 | Joint stiffness | |
| HP:0000664 | Synophrys | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1295
- This record as JSON: /data/d/1295.json