Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
ORPHA:83617Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Фенотипы (HPO)54
Очень частый (80–99%)1
HP:0010976Decreased total B cell count
Частый (30–79%)19
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000430Underdeveloped nasal alae
HP:0000452Choanal stenosis
HP:0000581Blepharophimosis
HP:0001036Parakeratosis
HP:0001051Seborrheic dermatitis
HP:0001166Arachnodactyly
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0002098Respiratory distress
HP:0002850Decreased circulating total IgM
HP:0004440Coronal craniosynostosis
HP:0008897Postnatal growth retardation
HP:0011471Gastrostomy tube feeding in infancy
HP:0025092Epidermal acanthosis
HP:0031190Superficial dermal perivascular inflammatory infiltrate
Периодический (5–29%)34
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000054Micropenis
HP:0000126Hydronephrosis
HP:0000160Narrow mouth
HP:0000244Brachyturricephaly
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000348High forehead
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000883Thin ribs
HP:0000890Long clavicles
HP:0000954Single transverse palmar crease
HP:0000964Eczematoid dermatitis
HP:0000989Pruritus
HP:0001081Cholelithiasis
HP:0001344Absent speech
HP:0001511Intrauterine growth retardation
HP:0001845Overlapping toe
HP:0002021Pyloric stenosis
HP:0002089Pulmonary hypoplasia
HP:0002208Coarse hair
HP:0002240Hepatomegaly
HP:0002506Diffuse cerebral atrophy
HP:0002594Pancreatic hypoplasia
HP:0002949Fused cervical vertebrae
HP:0004425Flat forehead
HP:0004616Cleft vertebral arch
HP:0005365Severe B lymphocytopenia
HP:0006560Biliary hyperplasia
HP:0009697Contracture of the distal interphalangeal joint of the fingers
HP:0011682Perimembranous ventricular septal defect
HP:0012444Brain atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)