Brachymorphism-onychodysplasia-dysphalangism syndrome
ORPHA:1292Malformation syndromeAutosomal dominantNeonatal
Фенотипы (HPO)38
Очень частый (80–99%)14
HP:0000252Microcephaly
HP:0000343Long philtrum
HP:0000431Wide nasal bridge
HP:0001156Brachydactyly
HP:0001800Hypoplastic toenails
HP:0001802Absent toenail
HP:0001804Hypoplastic fingernail
HP:0001817Absent fingernail
HP:0001857Short distal phalanx of toe
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
HP:0008398Hypoplastic fifth fingernail
HP:0100797Toenail dysplasia
HP:0100798Fingernail dysplasia
Частый (30–79%)11
HP:0000154Wide mouth
HP:0000272Malar flattening
HP:0000286Epicanthus
HP:0000307Pointed chin
HP:0000325Triangular face
HP:0000348High forehead
HP:0000448Prominent nose
HP:0000486Strabismus
HP:0001511Intrauterine growth retardation
HP:0002007Frontal bossing
HP:0004422Biparietal narrowing
Периодический (5–29%)13
HP:0000023Inguinal hernia
HP:0000248Brachycephaly
HP:0000280Coarse facial features
HP:0000574Thick eyebrow
HP:0001256Intellectual disability, mild
HP:0001537Umbilical hernia
HP:0001631Atrial septal defect
HP:0001633Abnormal mitral valve morphology
HP:0002086Abnormality of the respiratory system
HP:0002230Generalized hirsutism
HP:0004209Clinodactyly of the 5th finger
HP:0009773Symphalangism affecting the phalanges of the hand
HP:0009890High anterior hairline
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)