Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Synonyms: SOFT syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | SOFT syndrome |
| fr | Syndrome de petite taille-onychodysplasie-dysmorphie faciale-hypotrichose | Syndrome SOFT |
| de | Kleinwuchs-Onychodysplasie-Gesichtsdysmorphie-Hypotrichose-Syndrom | SOFT-Syndrom |
| es | Síndrome de talla baja-onicodisplasia-dismorfia facial-hipotricosis | Síndrome SOFT |
| it | Sindrome da bassa statura, onicodisplasia, dismorfismi facciali ed ipotricosi | Sindrome SOFT |
| nl | Kleine gestalte - onychodysplasie - faciale dysmorfie - hypotrichose-syndroom | SOFT-syndroom |
| pt | Síndrome de baixa estatura-onicodisplasia-dismorfia facial-hipotricose | Síndrome SOFT |
| pl | Zespół niski wzrost-onychodysplazja-dysmorfia twarzy-hipotrichoza | Zespół SOFT |
| cs | Syndrom zahrnující malý vzrůst, onychodysplázii, faciální dysmorfismus a hypotrichózu | SOFT syndrom |
| uk | Синдром низькорослості-оніходисплазії-дисморфізму обличчя-гіпотрихозу | SOFT-синдром |
| zh | 身材矮小-甲发育不良-面部畸形-毛发稀少症 | SOFT综合征 |
| tr | Kısa boy onikodisplazi-yüz dismorfizm-hipotrikoz sendromu | SOFT sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614813 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.Y | NTBT | attributed | validated |
| MONDO | 0013894 | E | validated | |
| UMLS | C3542022 | 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 (2):
- ORPHA:363250Ciliopathy
rare genetic diseases - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POC1A | Disease-causing germline mutation(s) in | Assessed | HGNC:24488 | ENSG00000164087 | 614783 | 3p21.2 | POC1 centriolar protein A | 22840363[PMID]_22840364[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 22440536[PMID]_22840364[PMID]_22840363[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314394
- This record as JSON: /data/d/314394.json