ORPHA:544488
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Synonyms: Bachmann-Bupp syndrome · Ornithine decarboxylase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | Bachmann-Bupp syndrome · Ornithine decarboxylase deficiency |
| fr | Syndrome de retard global de développement-alopécie-macrocéphalie-dysmorphie faciale-anomalies cérébrales structurelles | Déficit en ornithine décarboxylase · Syndrome de Bachmann-Bupp |
| de | Allgemeine Entwicklungsverzögerung-Alopezie-Makrozephalie-Gesichtsdysmorphie-strukturelle Hirnanomalien-Syndrom | Ornithin-Decarboxylase-Mangel |
| es | Síndrome de retraso global del desarrollo-alopecia-macrocefalia-dismorfia facial-anomalías estructurales cerebrales | Deficiencia de ornitina decarboxilasa |
| it | Sindrome ritardo dello sviluppo globale - alopecia - macrocefalia - dismorfismi facciali - anomalie strutturali del cervello | |
| nl | Algehele ontwikkelingsachterstand - alopecie - macrocefalie - faciale dysmorfie - structurele hersenanomalieën-syndroom | Ornithinedecarboxylasedeficiëntie |
| pt | Síndrome de perturbação global do desenvolvimento-alopecia-macrocefalia-dismorfia facial-anomalias cerebrais estruturais | Deficiência de ornitina descarboxilase · Síndrome Bachmann-Bupp |
| pl | Zespół całościowego opóźnienia rozwoju, łysienia, małogłowia, dysmorfii twarzy i wad strukturalnych mózgu | Zespół Bachmanna i Buppa · Ornithine decarboxylase deficiency |
| cs | Syndrom zahrnující celkové opoždění vývoje, alopecii, makrocefalii, faciální dysmorfismus a strukturální anomálie mozku | Deficit ornitin dekarboxylázy |
| uk | Синдром глобальної затримки розвитку-алопеції-макроцефалії-дисморфізму обличчя- структурних аномалій головного мозку | Синдром Бахмана-Буппа · Дефіцит орнітиндекарбоксилази |
| zh | 全身发育迟缓-脱发-大头畸形-面部畸形-结构性脑异常综合症 | 鸟氨酸脱羧酶缺乏症 |
| tr | Yaygın gelişme geriliği-alopesi-makrosefali-fasiyal dismorfizm-yapısal beyin anomalileri sendromu | Bachmann-Bupp sendromu · Ornitin dekarboksilaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619075 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.9 | NTBT | attributed | validated |
| MONDO | 33642 | E | validated | |
| UMLS | C5436741 | 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 (4):
- ORPHA:289869Disorder of ornithine metabolism
rare inborn errors of metabolism; rare genetic diseases - 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ODC1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:8109 | ENSG00000115758 | 165640 | 2p25.1 | ornithine decarboxylase 1 | 30239107[PMID]_30475435[PMID]_30544565[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 30239107[PMID]_30475435[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30239107[PMID]_30475435[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.
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HPO phenotypes
56 annotations · validated 2020-08-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002223 | Absent eyebrow | |
| HP:0000718 | Aggressive behavior | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0001488 | Bilateral ptosis | |
| HP:0000414 | Bulbous nose | |
| HP:0000490 | Deeply set eye | |
| HP:0012520 | Dilation of Virchow-Robin spaces | |
| HP:0001263 | Global developmental delay | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0000316 | Hypertelorism | |
| HP:0001520 | Large for gestational age | |
| HP:0002003 | Large forehead | |
| HP:0000256 | Macrocephaly | |
| HP:0000400 | Macrotia | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001561 | Polyhydramnios | |
| HP:0001792 | Small nail | |
| HP:0000653 | Sparse eyelashes | |
| Occasional (29-5%) | ||
| HP:0002334 | Abnormality of the cerebellar vermis | |
| HP:0000561 | Absent eyelashes | |
| HP:0001344 | Absent speech | |
| HP:0001596 | Alopecia | |
| HP:0002099 | Asthma | |
| HP:0000708 | Atypical behavior | |
| HP:0000581 | Blepharophimosis | |
| HP:0000337 | Broad forehead | |
| HP:0002608 | Celiac disease | |
| HP:0012450 | Chronic constipation | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0007082 | Dilated third ventricle | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0010880 | Increased nuchal translucency | |
| HP:0000023 | Inguinal hernia | |
| HP:0032152 | Keratosis pilaris | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0032671 | Non-convulsive status epilepticus without coma | |
| HP:0007109 | Periventricular cysts | |
| HP:0002465 | Poor speech | |
| HP:0000384 | Preauricular skin tag | |
| HP:0410018 | Recurrent ear infections | |
| HP:0000278 | Retrognathia | |
| HP:0000902 | Rib fusion | |
| HP:0000960 | Sacral dimple | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001257 | Spasticity | |
| HP:0001182 | Tapered finger | |
| HP:0011309 | Tapered toe | |
| HP:0007074 | Thick corpus callosum | |
| HP:0011276 | Vascular skin abnormality | |
Annotation source: 30239107[PMID]_30475435[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/544488
- This record as JSON: /data/d/544488.json