Acrofacial dysostosis, Palagonia type
ORPHA:1787Malformation syndromeUnknownInfancy, Neonatal
Фенотипы (HPO)29
Очень частый (80–99%)13
HP:0000294Low anterior hairline
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000653Sparse eyelashes
HP:0000677Oligodontia
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
HP:0005338Sparse lateral eyebrow
HP:0006101Finger syndactyly
HP:0010044Short 4th metacarpal
HP:0011800Midface retrusion
HP:0200055Small hand
Частый (30–79%)8
HP:0000272Malar flattening
HP:0000337Broad forehead
HP:0000414Bulbous nose
HP:0000470Short neck
HP:0003312Abnormal form of the vertebral bodies
HP:0008070Sparse hair
HP:0011069Supernumerary tooth
HP:0045074Thin eyebrow
Периодический (5–29%)8
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0003298Spina bifida occulta
HP:0003777Pili torti
HP:0004334Dermal atrophy
HP:0008065Aplasia/Hypoplasia of the skin
HP:0100333Unilateral cleft lip
HP:0000492Abnormal eyelid morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)