Focal dermal hypoplasia
ORPHA:2092Malformation syndromeX-linked dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)69
Очень частый (80–99%)26
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000370Abnormality of the middle ear
HP:0000682Abnormality of dental enamel
HP:0000963Thin skin
HP:0001000Abnormality of skin pigmentation
HP:0001018Abnormal palmar dermatoglyphics
HP:0001161Hand polydactyly
HP:0001171Split hand
HP:0001597Abnormality of the nail
HP:0001770Toe syndactyly
HP:0001839Split foot
HP:0004334Dermal atrophy
HP:0005930Abnormality of epiphysis morphology
HP:0006101Finger syndactyly
HP:0006482Abnormal dental morphology
HP:0008065Aplasia/Hypoplasia of the skin
HP:0009804Tooth agenesis
HP:0012733Macule
HP:0012740Papilloma
HP:0100490Camptodactyly of finger
HP:0100559Lower limb asymmetry
HP:0100560Upper limb asymmetry
HP:0100585Telangiectasia of the skin
HP:0100670Rough bone trabeculation
HP:0100790Hernia
Частый (30–79%)23
HP:0000003Multicystic kidney dysplasia
HP:0000085Horseshoe kidney
HP:0000164Abnormality of the dentition
HP:0000324Facial asymmetry
HP:0000486Strabismus
HP:0000567Chorioretinal coloboma
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0000773Short ribs
HP:0000894Short clavicles
HP:0001083Ectopia lentis
HP:0001482Subcutaneous nodule
HP:0001540Diastasis recti
HP:0001596Alopecia
HP:0002414Spina bifida
HP:0002650Scoliosis
HP:0007676Hypoplasia of the iris
HP:0007957Corneal opacity
HP:0008839Hypoplastic pelvis
HP:0010783Erythema
HP:0010807Open bite
HP:0100543Cognitive impairment
HP:0200036Skin nodule
Периодический (5–29%)20
HP:0000023Inguinal hernia
HP:0000126Hydronephrosis
HP:0000307Pointed chin
HP:0000446Narrow nasal bridge
HP:0000776Congenital diaphragmatic hernia
HP:0001537Umbilical hernia
HP:0001539Omphalocele
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0001671Abnormal cardiac septum morphology
HP:0002020Gastroesophageal reflux
HP:0002027Abdominal pain
HP:0002247Duodenal atresia
HP:0004930Abnormality of the pulmonary vasculature
HP:0006554Acute hepatic failure
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0008678Renal hypoplasia/aplasia
HP:0009124Abnormal adipose tissue morphology
HP:0011847Giant cell tumor of bone
HP:0045026Abnormality of the mediastinum
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 300 | 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)