ORPHA:2623
Geleophysic dysplasia
Synonyms: Geleophysic dwarfism
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Geleophysic dysplasia | Geleophysic dwarfism |
| fr | Dysplasie géléophysique | Nanisme géléophysique |
| de | Kleinwuchs, geleophysischer | Dysplasie, geleophysische |
| es | Displasia geleofísica | Enanismo geleofísico |
| it | Displasia geleofisica | Nanismo geleofisico |
| nl | Geleofysische dysplasie | Geleofysische dwerggroei |
| pt | Nanismo geleofísico | |
| pl | Dysplazja geleofizyczna | Niskorosłość geleofizyczna |
| cs | Geleofyzická dysplázie | Geleofyzické trpaslictví |
| uk | Гелеофізична дисплазія | Гелеофізична карликовість |
| zh | Geleophysic发育不良 | 猫体侏儒 |
| tr | Geleofizik displazi | Geleofizik cücelik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231050 | BTNT | validated | |
| OMIM | 614185 | BTNT | validated | |
| OMIM | 617809 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.8Y | NTBT | index | validated |
| MONDO | 0000127 | E | validated | |
| UMLS | C3489726 | E | validated | |
| GARD | 2449 | E | validated | |
| MedDRA | 10063361 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93436Acromelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAMTSL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:14631 | ENSG00000197859 | 612277 | 9q34.2 | ADAMTS like 2 | 20301776[PMID] |
| FBN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3603 | ENSG00000166147 | 134797 | 15q21.1 | fibrillin 1 | 20301776[PMID]_21683322[PMID] |
| LTBP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6716 | ENSG00000168056 | 602090 | 11q13.1 | latent transforming growth factor beta binding protein 3 | 27068007[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | 15088061[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
47 annotations · validated 2025-03-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0006536 | Airway obstruction | |
| HP:0000463 | Anteverted nares | |
| HP:0002099 | Asthma | |
| HP:0001156 | Brachydactyly | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0004890 | Elevated pulmonary artery pressure | |
| HP:0040261 | Increased size of nasopharyngeal adenoids | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0034392 | Joint contracture | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000343 | Long philtrum | |
| HP:0034281 | Phalangeal cone-shaped epiphyses | |
| HP:0001561 | Polyhydramnios | |
| HP:0410018 | Recurrent ear infections | |
| HP:0000311 | Round face | |
| HP:0011428 | Short fetal femur length | |
| HP:0001773 | Short foot | |
| HP:0003026 | Short long bone | |
| HP:0003196 | Short nose | |
| HP:0004279 | Short palm | |
| HP:0001072 | Thickened skin | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0034350 | Valvular pulmonary stenosis | |
| Occasional (29-5%) | ||
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0000483 | Astigmatism | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0002240 | Hepatomegaly | |
| HP:0001385 | Hip dysplasia | |
| HP:0000540 | Hypermetropia | |
| HP:0000316 | Hypertelorism | |
| HP:0001602 | Laryngeal stenosis | |
| HP:0001601 | Laryngomalacia | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001718 | Mitral stenosis | |
| HP:0000545 | Myopia | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0030051 | Tip-toe gait | |
| HP:0002777 | Tracheal stenosis | |
| HP:0002779 | Tracheomalacia | |
| Very rare (<4-1%) | ||
| HP:0000501 | Glaucoma | |
| HP:0000821 | Hypothyroidism | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301776[PMID]_33082559[PMID]_39705488[PMID]_30195254[PMID]_30057829[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2623
- This record as JSON: /data/d/2623.json