Orofaciodigital syndrome type 2
ORPHA:2751Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)1
HP:0000175Cleft palate
Частый (30–79%)18
HP:0000161Median cleft lip
HP:0000190Abnormal oral frenulum morphology
HP:0000199Tongue nodules
HP:0000218High palate
HP:0000431Wide nasal bridge
HP:0000685Hypoplasia of teeth
HP:0001841Preaxial foot polydactyly
HP:0004322Short stature
HP:0006042Y-shaped metacarpals
HP:0006101Finger syndactyly
HP:0006289Agenesis of central incisor
HP:0010055Broad hallux
HP:0010068Broad first metatarsal
HP:0010100Complete duplication of hallux phalanx
HP:0010297Bifid tongue
HP:0011802Hamartoma of tongue
HP:0011819Submucous cleft soft palate
HP:0040019Finger clinodactyly
Периодический (5–29%)26
HP:0000220Velopharyngeal insufficiency
HP:0000347Micrognathia
HP:0000405Conductive hearing impairment
HP:0000411Protruding ear
HP:0000506Telecanthus
HP:0000679Taurodontia
HP:0001161Hand polydactyly
HP:0001162Postaxial hand polydactyly
HP:0001263Global developmental delay
HP:0002104Apnea
HP:0002789Tachypnea
HP:0004987Mesomelic leg shortening
HP:0005349Hypoplasia of the epiglottis
HP:0005736Short tibia
HP:0005873Polysyndactyly of hallux
HP:0006342Peg-shaped maxillary lateral incisors
HP:0006695Atrioventricular canal defect
HP:0007768Central retinal vessel vascular tortuosity
HP:0008947Floppy infant
HP:0009826Limb undergrowth
HP:0010230Cone-shaped epiphyses of the phalanges of the hand
HP:0011087Talon cusp
HP:0030680Abnormal cardiovascular system morphology
HP:0100702Arachnoid cyst
HP:0100874Thick hair
HP:0410033Unilateral alveolar cleft of maxilla
Очень редкий (1–4%)4
HP:0000050Hypoplastic male external genitalia
HP:0000695Natal tooth
HP:0002069Bilateral tonic-clonic seizure
HP:0009776Adactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)