Cutaneous mastocytosis-deafness-microtia syndrome
ORPHA:2135Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)52
Очень частый (80–99%)31
HP:0000179Thick lower lip vermilion
HP:0000218High palate
HP:0000325Triangular face
HP:0000648Optic atrophy
HP:0000989Pruritus
HP:0001000Abnormality of skin pigmentation
HP:0001252Hypotonia
HP:0001284Areflexia
HP:0001508Failure to thrive
HP:0002119Ventriculomegaly
HP:0004322Short stature
HP:0008551Microtia
HP:0200034Papule
HP:0000252Microcephaly
HP:0000270Delayed cranial suture closure
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000405Conductive hearing impairment
HP:0000520Proptosis
HP:0000582Upslanted palpebral fissure
HP:0001025Urticaria
HP:0001250Seizure
HP:0001482Subcutaneous nodule
HP:0002027Abdominal pain
HP:0004209Clinodactyly of the 5th finger
HP:0007400Irregular hyperpigmentation
HP:0007440Generalized hyperpigmentation
HP:0010783Erythema
HP:0012733Macule
HP:0100490Camptodactyly of finger
HP:0100495Mastocytosis
Периодический (5–29%)21
HP:0001249Intellectual disability
HP:0002090Pneumonia
HP:0002093Respiratory insufficiency
HP:0002615Hypotension
HP:0002650Scoliosis
HP:0011344Severe global developmental delay
HP:0012378Fatigue
HP:0100559Lower limb asymmetry
HP:0000336Prominent supraorbital ridges
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0000737Irritability
HP:0000924Abnormality of the skeletal system
HP:0001072Thickened skin
HP:0002013Vomiting
HP:0003189Long nose
HP:0011675Arrhythmia
HP:0100326Immunologic hypersensitivity
HP:0100585Telangiectasia of the skin
HP:0100725Lichenification
HP:0200037Skin vesicle
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)