Terminal osseous dysplasia-pigmentary defects syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare acromelic dysplasia characterized by abnormal and/or delayed ossification of bones primarily in the hands and feet (that may lead to brachydactyly, camptodactyly, and clinodactyly), severe limb deformities, joint contractures, pigmentary skin lesions on the face and scalp and digital fibromatosis of the fingers and toes which appear a few months after birth. While the skeletal manifestations primarily affect the hands and feet, more generalized bone involvement including mesomelic bowing and/or shortening of the arms and legs have also been reported. Some patients may also present with craniofacial dysmorphism including midface hypoplasia, hypertelorism, ptosis, coloboma of the iris and eyelids, low-set ears, depressed nasal bridge, and multiple hypertrophic frenula. Additional clinical features may include short stature, short broad thorax, scoliosis, atrial septal defect and ventricular septal hypertrophy, pulmonary artery stenosis and anal stenosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Terminal osseous dysplasia-pigmentary defects syndrome | |
| fr | Syndrome de dysplasie osseuse terminale-défauts de pigmentation | |
| de | Terminale Knochendysplasie-Pigmentstörung-Syndrom | |
| es | Síndrome de displasia ósea terminal-defectos pigmentarios | |
| it | Displasia ossea terminale - difetti della pigmentazione | |
| nl | Terminale botdysplasie - pigmentdefecten-syndroom | |
| pt | Síndrome de displasia óssea termina-defeitos pigmentares | |
| pl | Terminalna dysplazja kostna - zaburzenia barwnikowe | |
| cs | Syndrom zahrnující terminální kostní dysplázii a pigmentové defekty | |
| uk | Синдром термінальної кісткової дисплазії-пігментних дефектів | |
| zh | 远端骨发育不良-色素缺陷综合征 | |
| tr | Terminal kemik displazi-pigment defektleri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300244 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD24.8Y | NTBT | index | validated |
| MONDO | 0010279 | E | validated | |
| UMLS | C4509953 | 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:93436Acromelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93425Filamin-related bone disorder
rare genetic diseases - ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLNA | Disease-causing germline mutation(s) in | Assessed | HGNC:3754 | ENSG00000196924 | 300017 | Xq28 | filamin A | 20598277[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26059211[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
23 annotations · validated 2022-11-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025473 | Hyperpigmented papule | |
| HP:0025197 | Inclusion body fibromatosis | |
| Frequent (79-30%) | ||
| HP:0000191 | Accessory oral frenulum | |
| HP:0001596 | Alopecia | |
| HP:0001156 | Brachydactyly | |
| HP:0030084 | Clinodactyly | |
| HP:0001371 | Flexion contracture | |
| Occasional (29-5%) | ||
| HP:0012385 | Camptodactyly | |
| HP:0000437 | Depressed nasal tip | |
| HP:0000286 | Epicanthus | |
| HP:0000316 | Hypertelorism | |
| HP:0000685 | Hypoplasia of teeth | |
| HP:0000612 | Iris coloboma | |
| HP:0009139 | Osteolysis involving bones of the lower limbs | |
| HP:0045039 | Osteolysis involving bones of the upper limbs | |
| HP:0001655 | Patent foramen ovale | |
| HP:0004467 | Preauricular pit | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0010306 | Short thorax | |
| HP:0001159 | Syndactyly | |
| Very rare (<4-1%) | ||
| HP:0001653 | Mitral regurgitation | |
| HP:0001723 | Restrictive cardiomyopathy | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 10982966[PMID]_26059211[PMID]_20598277[PMID]_20583181[PMID]_34254723[PMID]_25614868[PMID]_26061098[PMID]_30561107[PMID]_17152064[PMID]_31919883[PMID]_12738953[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88630
- This record as JSON: /data/d/88630.json