Symptomatic form of Coffin-Lowry syndrome in female carriers
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Symptomatic form of Coffin-Lowry syndrome in female carriers | |
| fr | Forme symptomatique du syndrome de Coffin-Lowry de la femme porteuse | |
| de | Symptomale Form des Coffin-Lowry-Syndroms bei weiblichen Anlageträgerinnen | |
| es | Forma sintomática del síndrome de Coffin-Lowry en mujeres portadoras | |
| it | Forma sintomatica della sindrome di Coffin-Lowry nelle femmine portatrici | |
| nl | Symptomatische vorm van Coffin-Lowrysyndroom bij vrouwelijke dragers | |
| pt | Síndrome de Coffin-Lowry em mulheres portadoras, forma sintomática | |
| pl | Objawowa postać zespołu Coffina i Lowry'ego u kobiet nosicielek | |
| cs | Symptomatická forma Coffinova-Lowryho syndromu u žen přenašeček | Symptomatická forma Coffin-Lowryho syndromu u žen přenašeček |
| uk | Симптоматична форма синдрому Коффіна-Лоурі у жінок-носіїв | |
| zh | 女性Coffin-Lowry综合征携带者症候 | |
| tr | Kadın taşıyıcılarda Coffin-Lowry sendromunun semptomatik formu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300844 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0017193 | E | validated | |
| UMLS | C5680787 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RPS6KA3 | Disease-causing germline mutation(s) in | Assessed | HGNC:10432 | ENSG00000177189 | 300075 | Xp22.12 | ribosomal protein S6 kinase A3 | 20301520[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001176 | Large hands | |
| HP:0001182 | Tapered finger | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000674 | Anodontia | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0000716 | Depression | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0002808 | Kyphosis | |
| HP:0001513 | Obesity | |
| HP:0000677 | Oligodontia | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0000709 | Psychosis | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000445 | Wide nose | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276630
- This record as JSON: /data/d/276630.json