Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
ORPHA:1555Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)26
HP:0000262Turricephaly
HP:0000268Dolichocephaly
HP:0000271Abnormality of the face
HP:0000272Malar flattening
HP:0000364Hearing abnormality
HP:0000400Macrotia
HP:0000453Choanal atresia
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000520Proptosis
HP:0000929Abnormal skull morphology
HP:0000956Acanthosis nigricans
HP:0000982Palmoplantar keratoderma
HP:0000995Melanocytic nevus
HP:0001482Subcutaneous nodule
HP:0001732Abnormality of the pancreas
HP:0002098Respiratory distress
HP:0002676Cloverleaf skull
HP:0004450Preauricular skin furrow
HP:0005280Depressed nasal bridge
HP:0007469Palmoplantar cutis gyrata
HP:0009804Tooth agenesis
HP:0009906Aplasia/Hypoplasia of the earlobes
HP:0010669Hypoplasia of the zygomatic bone
HP:0011800Midface retrusion
HP:0100761Visceral angiomatosis
Частый (30–79%)4
HP:0000048Bifid scrotum
HP:0000189Narrow palate
HP:0001363Craniosynostosis
HP:0003246Prominent scrotal raphe
Периодический (5–29%)14
HP:0000028Cryptorchidism
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000238Hydrocephalus
HP:0000316Hypertelorism
HP:0000391Thickened helices
HP:0000463Anteverted nares
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0000648Optic atrophy
HP:0000822Hypertension
HP:0001537Umbilical hernia
HP:0001545Anteriorly placed anus
HP:0001597Abnormality of the nail
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | 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)