ORPHA:56304
Atelosteogenesis type II
Synonyms: AO2 · AOII · Atelosteogenesis type 2 · De la Chapelle dysplasia · Neonatal osseous dysplasia type 1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atelosteogenesis type II | AO2 · AOII · Atelosteogenesis type 2 · De la Chapelle dysplasia · Neonatal osseous dysplasia type 1 |
| fr | Atélostéogenèse type II | AO2 · AOII · Atélostéogenèse type 2 · Chondrodysplasie létale type de la Chapelle · Dysplasie osseuse néonatale type 1 |
| de | Atelosteogenesis Typ II | AO2 · AOII · Atelosteogenesis Typ 2 · Dysplasie Typ De-la-Chapelle · Dysplasie, neonatale ossäre, Typ 1 |
| es | Atelosteogénesis tipo II | Displasia de la Chapelle · Displasia ósea neonatal tipo 1 · AO2 · AOII · Atelosteogénesis tipo 2 |
| it | Atelosteogenesi 2 | Displasia di De la Chapelle · Displasia ossea neonatale 1 |
| nl | Atelosteogenese type II | AO2 · AOII · Atelosteogenese type 2 · Dysplasie, De la Chapelle-type · Neonatale ossale dysplasie type 1 |
| pt | Atelosteogénese II | Displasia de la Chapelle · Displasia óssea neonatal 1 |
| pl | Atelosteogeneza typu II | AO2 · AOII · Atelosteogeneza typu 2 · Dysplazja De la Chapelle · Noworodkowa dysplazja kości typu 1 |
| cs | Atelosteogeneze, typ II | Atelosteogeneze, typ 2 · De la Chapellova dysplázie · Neonatální oseální dysplázie, typ 1 |
| uk | Ателостеогенез, тип II | AO2 · AOII · Ателостеогенез типу 2 · Дисплазія де ла Шапель · Неонатальна кісткова дисплазія типу 1 |
| zh | 成骨不全II型 | 新生儿骨发育不良1型 |
| tr | Atelosteogenez tip II | AO2 · AOII · Atelosteogenez tip 2 · De la Chapelle displazisi · Yenidoğan kemik displazisi tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256050 | E | validated | |
| ICD-10 | Q77.5 | NTBT | attributed | validated |
| ICD-11 | LD24.03 | NTBT | index | validated |
| MONDO | 0009727 | E | validated | |
| MeSH | C535395 | E | validated | |
| UMLS | C1850554 | E | validated | |
| GARD | 8329 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:138055Pierre Robin syndrome associated with bone disease
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:93423Sulfation-related bone disorder
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2640Lethal short-limb dwarfism, McAlister-Crane type moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC26A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10994 | ENSG00000155850 | 606718 | 5q32 | solute carrier family 26 member 2 | 20301493[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
53 annotations · validated 2019-03-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009826 | Limb undergrowth | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001591 | Bell-shaped thorax | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0001156 | Brachydactyly | |
| HP:0001230 | Broad metacarpals | |
| HP:0006009 | Broad phalanx | |
| HP:0012385 | Camptodactyly | |
| HP:0000175 | Cleft palate | |
| HP:0006375 | Dumbbell-shaped femur | |
| HP:0008110 | Equinovarus deformity | |
| HP:0012427 | Excessive femoral anteversion | |
| HP:0002857 | Genu valgum | |
| HP:0001234 | Hitchhiker thumb | |
| HP:0008752 | Laryngeal cartilage malformation | |
| HP:0001602 | Laryngeal stenosis | |
| HP:0001840 | Metatarsus adductus | |
| HP:0000774 | Narrow chest | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0008905 | Rhizomelia | |
| HP:0004991 | Rhizomelic arm shortening | |
| HP:0001852 | Sandal gap | |
| HP:0003097 | Short femur | |
| HP:0006385 | Short lower limbs | |
| HP:0010049 | Short metacarpal | |
| HP:0000470 | Short neck | |
| HP:0009803 | Short phalanx of finger | |
| HP:0000773 | Short ribs | |
| HP:0005257 | Thoracic hypoplasia | |
| HP:0003423 | Thoracolumbar kyphoscoliosis | |
| HP:0100694 | Tibial torsion | |
| HP:0002786 | Tracheobronchomalacia | |
| HP:0001193 | Ulnar deviation of the hand or of fingers of the hand | |
| HP:0009824 | Upper limb undergrowth | |
| Occasional (29-5%) | ||
| HP:0100337 | Bilateral cleft palate | |
| HP:0002947 | Cervical kyphosis | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0000286 | Epicanthus | |
| HP:0004664 | Facial midline hemangioma | |
| HP:0000316 | Hypertelorism | |
| HP:0008434 | Hypoplastic cervical vertebrae | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0002983 | Micromelia | |
| HP:0011800 | Midface retrusion | |
| HP:0001357 | Plagiocephaly | |
| HP:0001561 | Polyhydramnios | |
| HP:0001538 | Protuberant abdomen | |
| HP:0000506 | Telecanthus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0012810 | Wide nasal base | |
| Very rare (<4-1%) | ||
| HP:0003042 | Elbow dislocation | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21077202[PMID]_20301493[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/56304
- This record as JSON: /data/d/56304.json