Hypoglossia-hypodactyly syndrome
ORPHA:989Malformation syndromeUnknownAntenatal, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)5
HP:0000160Narrow mouth
HP:0000347Micrognathia
HP:0009813Upper limb phocomelia
HP:0010295Aplasia/Hypoplasia of the tongue
HP:0010669Hypoplasia of the zygomatic bone
Частый (30–79%)11
HP:0000175Cleft palate
HP:0000431Wide nasal bridge
HP:0000506Telecanthus
HP:0000668Hypodontia
HP:0001156Brachydactyly
HP:0001171Split hand
HP:0001231Abnormal fingernail morphology
HP:0006101Finger syndactyly
HP:0006265Aplasia/Hypoplasia of fingers
HP:0009776Adactyly
HP:0009882Short distal phalanx of finger
Периодический (5–29%)10
HP:0000218High palate
HP:0000324Facial asymmetry
HP:0001249Intellectual disability
HP:0001291Abnormal cranial nerve morphology
HP:0001522Death in infancy
HP:0001543Gastroschisis
HP:0002023Anal atresia
HP:0002167Abnormality of speech or vocalization
HP:0005235Jejunal atresia
HP:0008872Feeding difficulties in infancy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 47 | 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)