Ulbright-Hodes syndrome
Synonyms: Renal dysplasia-limb defects syndrome · Renal dysplasia-mesomelia-radiohumeral fusion syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ulbright-Hodes syndrome | Renal dysplasia-limb defects syndrome · Renal dysplasia-mesomelia-radiohumeral fusion syndrome |
| fr | Syndrome d'Ulbright-Hodes | Syndrome de dysplasie rénale-anomalie des membres · Syndrome de dysplasie rénale-mésomélie-fusion radio-humérale |
| de | Ulbright-Hodes-Syndrom | Nierendysplasie-Gliedmaßendefekte-Syndrom · Syndrom der Nierendysplasie mit Mesomelie und radiohumeraler Synostose |
| es | Síndrome de Ulbright-Hodes | |
| it | Sindrome di Ulbright-Hodes | Displasia renale - anomalie degli arti · Displasia renale - fusione mesomelica radio-omerale |
| nl | Syndroom van Ulbright-Hodes | Nierdysplasie - ledemaatdefecten-syndroom · Nierdysplasie - mesomelie - radiohumerale fusie-syndroom |
| pt | Síndrome Ulbright-Hodes | Síndrome de displasia renal-anomalias dos membros · Síndrome de displasia renal-mesomelia-fusão radio-umeral |
| pl | Zespół Ulbrighta i Hodesa | Dysplazja nerek - mezomelia - zrost kości promieniowej i ramiennej · Dysplazja nerek - wady kończyn |
| cs | Ulbrightové-Hodesův syndrom | Syndrom zahrnující renální dysplázii, mezomelii a radiohumerální fúzi · Syndrom zahrnující renální dysplázii a poruchy končetin · Ulbright-Hodesův syndrom |
| uk | Синдром Ульбрайта-Хоудса | Синдром ниркової дисплазії з дефектами кінцівок · Синдром ниркової дисплазії-мезомелії-радіоплечового зрощення |
| zh | Ulbright-Hodes综合征 | 肾发育不良-肢体中部短肢-桡骨肱骨融合综合征 |
| tr | Ulbright-Hodes sendromu | Böbrek displazisi-ekstremite defektleri sendromu · Böbrek displazisi-mezomeli-radyohumeral füzyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266910 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009963 | E | validated | |
| MeSH | C537754 | E | validated | |
| UMLS | C1849438 | E | validated | |
| GARD | 5394 | 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:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 6711618[PMID]_2240030[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6711618[PMID]_2240030[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
44 annotations · validated 2017-11-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000811 | Abnormal external genitalia | |
| HP:0040072 | Abnormal forearm bone morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000036 | Abnormality of the penis | |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | |
| HP:0003561 | Birth length less than 3rd percentile | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0008683 | Enlarged labia minora | |
| HP:0002990 | Fibular aplasia | |
| HP:0000218 | High palate | |
| HP:0003041 | Humeroradial synostosis | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0011341 | Long upper lip | |
| HP:0000369 | Low-set ears | |
| HP:0009800 | Maternal diabetes | |
| HP:0003027 | Mesomelia | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0001562 | Oligohydramnios | |
| HP:0003309 | Ovoid thoracolumbar vertebrae | |
| HP:0009829 | Phocomelia | |
| HP:0002107 | Pneumothorax | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002009 | Potter facies | |
| HP:0000269 | Prominent occiput | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000089 | Renal hypoplasia | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| HP:0008846 | Severe intrauterine growth retardation | |
| HP:0005792 | Short humerus | |
| HP:0010049 | Short metacarpal | |
| HP:0000470 | Short neck | |
| HP:0000773 | Short ribs | |
| HP:0000879 | Short sternum | |
| HP:0001195 | Single umbilical artery | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000883 | Thin ribs | |
| HP:0000233 | Thin vermilion border | |
Annotation source: 15476130[PMID]_2240030[PMID]_6711618[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3404
- This record as JSON: /data/d/3404.json