ORPHA:235
Dubowitz syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dubowitz syndrome | |
| fr | Syndrome de Dubowitz | |
| de | Dubowitz-Syndrom | |
| es | Síndrome de Dubowitz | |
| it | Sindrome di Dubowitz | |
| nl | Syndroom van Dubowitz | |
| pt | Síndrome Dubowitz | |
| pl | Zespół Dubowitza | |
| cs | Dubowitzův syndrom | |
| uk | Синдром Дубовиця | |
| zh | dubowitz综合征 | |
| tr | Dubowitz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 223370 | E | validated | |
| ICD-10 | Q87.1 | NTBT | inclusion | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009124 | E | validated | |
| MeSH | C535718 | E | validated | |
| UMLS | C0175691 | E | validated | |
| GARD | 6290 | E | validated | |
| MedDRA | 10059589 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| 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.
6
HPO phenotypes
102 annotations · validated 2024-03-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009602 | Abnormality of thumb phalanx | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0011304 | Broad thumb | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| HP:0000506 | Telecanthus | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| Frequent (79-30%) | ||
| HP:0000055 | Abnormality of female external genitalia | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000581 | Blepharophimosis | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0002213 | Fine hair | |
| HP:0001609 | Hoarse voice | |
| HP:0000047 | Hypospadias | |
| HP:0000294 | Low anterior hairline | |
| HP:0000347 | Micrognathia | |
| HP:0000275 | Narrow face | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000411 | Protruding ear | |
| HP:0000508 | Ptosis | |
| HP:0002719 | Recurrent infections | |
| HP:0000403 | Recurrent otitis media | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001852 | Sandal gap | |
| HP:0001773 | Short foot | |
| HP:0000340 | Sloping forehead | |
| HP:0200055 | Small hand | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0002209 | Sparse scalp hair | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0000260 | Wide anterior fontanel | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0001874 | Abnormality of neutrophils | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0002025 | Anal stenosis | |
| HP:0001903 | Anemia | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002099 | Asthma | |
| HP:5200060 | Auditory hypersensitivity | |
| HP:0001156 | Brachydactyly | |
| HP:0000518 | Cataract | |
| HP:0002028 | Chronic diarrhea | |
| HP:0002019 | Constipation | |
| HP:0001363 | Craniosynostosis | |
| HP:0000965 | Cutis marmorata | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000678 | Dental crowding | |
| HP:0000958 | Dry skin | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0000126 | Hydronephrosis | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001252 | Hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0002024 | Malabsorption | |
| HP:0001840 | Metatarsus adductus | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000767 | Pectus excavatum | |
| HP:0000613 | Photophobia | |
| HP:0002035 | Rectal prolapse | |
| HP:0000960 | Sacral dimple | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000736 | Short attention span | |
| HP:0002360 | Sleep abnormality | |
| HP:0001328 | Specific learning disability | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000486 | Strabismus | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001770 | Toe syndactyly | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0006721 | Acute lymphoblastic leukemia | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000612 | Iris coloboma | |
| HP:0002665 | Lymphoma | |
| HP:0000485 | Megalocornea | |
| HP:0000568 | Microphthalmia | |
| HP:0002664 | Neoplasm | |
| HP:0000154 | Wide mouth | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 33098347[PMID]_30580484[PMID]_22121397[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/235
- This record as JSON: /data/d/235.json