Zechi-Ceide syndrome
ORPHA:217017Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)34
Частый (30–79%)26
HP:0000175Cleft palate
HP:0000233Thin vermilion border
HP:0000303Mandibular prognathia
HP:0000322Short philtrum
HP:0000363Abnormality of earlobe
HP:0000402Stenosis of the external auditory canal
HP:0000405Conductive hearing impairment
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0000677Oligodontia
HP:0000932Abnormality of the posterior cranial fossa
HP:0001263Global developmental delay
HP:0001320Cerebellar vermis hypoplasia
HP:0001792Small nail
HP:0001833Long foot
HP:0001852Sandal gap
HP:0002714Downturned corners of mouth
HP:0004470Atretic occipital cephalocele
HP:0009882Short distal phalanx of finger
HP:0010743Short metatarsal
HP:0011039Abnormality of the helix
HP:0011220Prominent forehead
HP:0011800Midface retrusion
HP:0012745Short palpebral fissure
HP:0045025Narrow palpebral fissure
HP:0410030Cleft lip
Периодический (5–29%)8
HP:0000369Low-set ears
HP:0001249Intellectual disability
HP:0001627Abnormal heart morphology
HP:0001631Atrial septal defect
HP:0004451Postauricular skin tag
HP:0008551Microtia
HP:0012704Widened subarachnoid space
HP:0100874Thick hair
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)