Dysmorphism-cleft palate-loose skin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, <i>pectus excavatum</i>, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysmorphism-cleft palate-loose skin syndrome | |
| fr | Syndrome de dysmorphie-fente palatine-excès de peau | |
| de | Dysmorphien-Gaumenspalte-lose Haut-Syndrom | |
| es | Síndrome de dismorfia-paladar hendido-piel laxa | |
| it | Dismorfismo - palatoschisi - cute ridondante | |
| nl | Dysmorfie - gespleten verhemelte - slappe huid | |
| pt | Síndrome de dismorfia-fenda palatina-pele laxa | |
| pl | Dysmorfia - rozszczep podniebienia - luźna skóra | |
| cs | Syndrom zahrnující dysmorfismus, rozštěp patra a volnou kůži | |
| uk | Синдром дизморфізму-розщілини піднебіння-вялої шкіри | |
| zh | 外貌畸形-腭裂-皮肤松弛综合征 | |
| tr | Dismorfizm-yarık damak-gevşek deri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0015782 | E | validated | |
| UMLS | C4706366 | E | validated | |
| GARD | 2009 | 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 (1):
- ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000286 | Epicanthus | |
| HP:0001347 | Hyperreflexia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000276 | Long face | |
| HP:0000347 | Micrognathia | |
| HP:0000275 | Narrow face | |
| HP:0001582 | Redundant skin | |
| HP:0000098 | Tall stature | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0000243 | Trigonocephaly | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1779
- This record as JSON: /data/d/1779.json