Symphalangism with multiple anomalies of hands and feet
ORPHA:3246Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)22
Очень частый (80–99%)3
HP:0004197Symphalangism of the 4th finger
HP:0004218Symphalangism of the 5th finger
HP:0006019Reduced proximal interphalangeal joint space
Частый (30–79%)13
HP:0000256Macrocephaly
HP:0001032Absent distal interphalangeal creases
HP:0001156Brachydactyly
HP:0001245Small thenar eminence
HP:0001770Toe syndactyly
HP:0005807Absent distal phalanges
HP:0006101Finger syndactyly
HP:0007477Abnormal dermatoglyphics
HP:0009700Finger symphalangism
HP:0010179Symphalangism affecting the phalanges of the toes
HP:0010182Abnormality of the distal phalanges of the toes
HP:0010487Small hypothenar eminence
HP:0030084Clinodactyly
Периодический (5–29%)6
HP:0000405Conductive hearing impairment
HP:0001018Abnormal palmar dermatoglyphics
HP:00056502-5 finger cutaneous syndactyly
HP:0006143Abnormal finger flexion creases
HP:0010103Short distal phalanx of hallux
HP:0100371Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)