Ulbright-Hodes syndrome
ORPHA:3404Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)44
Частый (30–79%)44
HP:0000028Cryptorchidism
HP:0000036Abnormality of the penis
HP:0000089Renal hypoplasia
HP:0000113Polycystic kidney dysplasia
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000233Thin vermilion border
HP:0000269Prominent occiput
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0000470Short neck
HP:0000772Abnormal rib morphology
HP:0000773Short ribs
HP:0000811Abnormal external genitalia
HP:0000879Short sternum
HP:0000883Thin ribs
HP:0001195Single umbilical artery
HP:0001562Oligohydramnios
HP:0001762Talipes equinovarus
HP:0002009Potter facies
HP:0002089Pulmonary hypoplasia
HP:0002098Respiratory distress
HP:0002107Pneumothorax
HP:0002878Respiratory failure
HP:0002984Hypoplasia of the radius
HP:0002990Fibular aplasia
HP:0003027Mesomelia
HP:0003041Humeroradial synostosis
HP:0003309Ovoid thoracolumbar vertebrae
HP:0003561Birth length less than 3rd percentile
HP:0005280Depressed nasal bridge
HP:0005792Short humerus
HP:0006495Aplasia/Hypoplasia of the ulna
HP:0008665Clitoral hypertrophy
HP:0008683Enlarged labia minora
HP:0008846Severe intrauterine growth retardation
HP:0008897Postnatal growth retardation
HP:0009800Maternal diabetes
HP:0009829Phocomelia
HP:0010049Short metacarpal
HP:0011341Long upper lip
HP:0040072Abnormal forearm bone morphology
HP:0000444Convex nasal ridge
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)