ORPHA:83617
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome | |
| fr | Syndrome d'agammaglobulinémie-microcéphalie-craniosténose-dermatite sévère | |
| de | Agammaglobulinämie-Mikrozephalie-Kraniosynostose-schwere Dermatitis-Syndrom | |
| es | Síndrome de agammaglobulinemia-microcefalia-craneosinostosis-dermatitis grave | |
| it | Sindrome agammaglobulinemia-microcefalia-craniosinostosi-dermatite grave | |
| nl | Agammaglobulinemie - microcefalie - craniosynostose - ernstige dermatitis-syndroom | |
| pt | Síndrome de agamaglobulinemia-microcefalia-craniossinostose-dermatite grave | |
| pl | Zespół agammaglobulinemii, mikrocefalii, kraniosynostozy i ciężkiego zapalenia skóry | |
| cs | Syndrom zahrnující agamaglobulinémii, mikrocefalii, kraniosynostózu a těžkou dermatitidu | |
| uk | Синдром агаммаглобулінемії-мікроцефалії-краніосиностозу-тяжкого дерматиту | |
| zh | 无丙种球蛋白血症-小头畸形-颅缝早闭-重型皮炎综合征 | |
| tr | Agamaglobulinemi-mikrosefali-kraniyosinostoz-ağır dermatit sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610483 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | 4A01.00 | NTBT | index | validated |
| MONDO | 0012508 | E | validated | |
| UMLS | C4302680 | E | validated | |
| GARD | 10011 | 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:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:229720Syndromic agammaglobulinemia
rare genetic diseases; rare immunological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 16691627[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16691627[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
54 annotations · validated 2019-03-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010976 | Decreased total B cell count | |
| Frequent (79-30%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0000581 | Blepharophimosis | |
| HP:0000452 | Choanal stenosis | |
| HP:0000175 | Cleft palate | |
| HP:0004440 | Coronal craniosynostosis | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0025092 | Epidermal acanthosis | |
| HP:0001508 | Failure to thrive | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001036 | Parakeratosis | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002098 | Respiratory distress | |
| HP:0001051 | Seborrheic dermatitis | |
| HP:0031190 | Superficial dermal perivascular inflammatory infiltrate | |
| HP:0000430 | Underdeveloped nasal alae | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0006560 | Biliary hyperplasia | |
| HP:0000244 | Brachyturricephaly | |
| HP:0012444 | Brain atrophy | |
| HP:0001081 | Cholelithiasis | |
| HP:0004616 | Cleft vertebral arch | |
| HP:0002208 | Coarse hair | |
| HP:0009697 | Contracture of the distal interphalangeal joint of the fingers | |
| HP:0000028 | Cryptorchidism | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000286 | Epicanthus | |
| HP:0004425 | Flat forehead | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0002240 | Hepatomegaly | |
| HP:0000348 | High forehead | |
| HP:0000126 | Hydronephrosis | |
| HP:0000023 | Inguinal hernia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000890 | Long clavicles | |
| HP:0000054 | Micropenis | |
| HP:0000160 | Narrow mouth | |
| HP:0001845 | Overlapping toe | |
| HP:0002594 | Pancreatic hypoplasia | |
| HP:0011682 | Perimembranous ventricular septal defect | |
| HP:0000989 | Pruritus | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000278 | Retrognathia | |
| HP:0005365 | Severe B lymphocytopenia | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000883 | Thin ribs | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 16691627[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83617
- This record as JSON: /data/d/83617.json