Flat face-microstomia-ear anomaly syndrome
ORPHA:1968Malformation syndromeUnknownNeonatal
Фенотипы (HPO)32
Очень частый (80–99%)25
HP:0000160Narrow mouth
HP:0000272Malar flattening
HP:0000276Long face
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000400Macrotia
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000506Telecanthus
HP:0000581Blepharophimosis
HP:0001611Hypernasal speech
HP:0002553Highly arched eyebrow
HP:0002705High, narrow palate
HP:0002714Downturned corners of mouth
HP:0003189Long nose
HP:0009738Abnormality of the antihelix
HP:0009896Abnormality of the antitragus
HP:0009906Aplasia/Hypoplasia of the earlobes
HP:0009912Abnormal tragus morphology
HP:0010669Hypoplasia of the zygomatic bone
HP:0010751Chin dimple
HP:0012368Flat face
HP:0045075Sparse eyebrow
Частый (30–79%)5
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0002650Scoliosis
HP:0000358Posteriorly rotated ears
Периодический (5–29%)2
HP:0011830Abnormal oral mucosa morphology
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)