Limb-mammary syndrome
ORPHA:69085Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Частый (30–79%)6
HP:0000564Lacrimal duct atresia
HP:0001092Absent lacrimal punctum
HP:0002557Hypoplastic nipples
HP:0002561Absent nipple
HP:0012814Bilateral breast hypoplasia
HP:0100783Breast aplasia
Периодический (5–29%)16
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000498Blepharitis
HP:0000668Hypodontia
HP:0000958Dry skin
HP:0000966Hypohidrosis
HP:0001159Syndactyly
HP:0001770Toe syndactyly
HP:0002164Nail dysplasia
HP:0004209Clinodactyly of the 5th finger
HP:0007717Chronic irritative conjunctivitis
HP:0011819Submucous cleft soft palate
HP:00119393-4 finger cutaneous syndactyly
HP:0012165Oligodactyly
HP:0410005Cleft hard palate
HP:0410030Cleft lip
Очень редкий (1–4%)10
HP:0000151Aplasia of the uterus
HP:0000272Malar flattening
HP:0000411Protruding ear
HP:0000786Primary amenorrhea
HP:0001480Freckling
HP:0001596Alopecia
HP:0003765Psoriasiform dermatitis
HP:0007565Multiple cafe-au-lait spots
HP:0010463Aplasia of the ovary
HP:0045075Sparse eyebrow
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 38 | 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)