Acrofacial dysostosis, Catania type
ORPHA:1786Malformation syndromeAutosomal dominant, X-linked dominantAntenatal, Neonatal
Фенотипы (HPO)35
Очень частый (80–99%)17
HP:0000164Abnormality of the dentition
HP:0000174Abnormal palate morphology
HP:0000252Microcephaly
HP:0000308Microretrognathia
HP:0000319Smooth philtrum
HP:0000348High forehead
HP:0000494Downslanted palpebral fissures
HP:0000670Carious teeth
HP:0001156Brachydactyly
HP:0001256Intellectual disability, mild
HP:0003196Short nose
HP:0004279Short palm
HP:0004322Short stature
HP:0006101Finger syndactyly
HP:0007477Abnormal dermatoglyphics
HP:0010669Hypoplasia of the zygomatic bone
HP:0200055Small hand
Частый (30–79%)8
HP:0000028Cryptorchidism
HP:0001511Intrauterine growth retardation
HP:0002750Delayed skeletal maturation
HP:0004467Preauricular pit
HP:0007598Bilateral single transverse palmar creases
HP:0008872Feeding difficulties in infancy
HP:0010720Abnormal hair pattern
HP:0000358Posteriorly rotated ears
Периодический (5–29%)10
HP:0000023Inguinal hernia
HP:0000047Hypospadias
HP:0000465Webbed neck
HP:0000767Pectus excavatum
HP:0001622Premature birth
HP:0002006Facial cleft
HP:0002208Coarse hair
HP:0003298Spina bifida occulta
HP:0004209Clinodactyly of the 5th finger
HP:0009804Tooth agenesis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Family(ies) |
| 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)