Pallister-Hall syndrome
ORPHA:672Malformation syndromeAutosomal dominant, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)100
Облигатный (100%)1
HP:0002444Hypothalamic hamartoma
Частый (30–79%)46
HP:0000358Posteriorly rotated ears
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000568Microphthalmia
HP:0000695Natal tooth
HP:0000902Rib fusion
HP:0001156Brachydactyly
HP:0001162Postaxial hand polydactyly
HP:0001511Intrauterine growth retardation
HP:0001770Toe syndactyly
HP:0002023Anal atresia
HP:0002164Nail dysplasia
HP:0002652Skeletal dysplasia
HP:0002827Hip dislocation
HP:0002937Hemivertebrae
HP:0002986Radial bowing
HP:0003048Radial head subluxation
HP:0003196Short nose
HP:0004322Short stature
HP:0005917Supernumerary metacarpal bones
HP:0006136Bilateral postaxial polydactyly
HP:0008213Gonadotropin deficiency
HP:0008240Secondary growth hormone deficiency
HP:0008245Pituitary hypothyroidism
HP:0008551Microtia
HP:0008751Laryngeal cleft
HP:0009958Polydactyly affecting the 3rd finger
HP:0009971Polydactyly affecting the 4th finger
HP:0010044Short 4th metacarpal
HP:0011304Broad thumb
HP:0011734Central adrenal insufficiency
HP:0011748Adrenocorticotropic hormone deficiency
HP:00119393-4 finger cutaneous syndactyly
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0040075Hypopituitarism
HP:0040086Abnormal prolactin level
HP:0100260Mesoaxial polydactyly
HP:0200117Recurrent upper and lower respiratory tract infections
HP:0000110Renal dysplasia
HP:0000191Accessory oral frenulum
HP:0000193Bifid uvula
HP:0000256Macrocephaly
HP:0000316Hypertelorism
HP:0000413Atresia of the external auditory canal
HP:0000457Depressed nasal ridge
HP:0000463Anteverted nares
Периодический (5–29%)38
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000086Ectopic kidney
HP:0000122Unilateral renal agenesis
HP:0000171Microglossia
HP:0000175Cleft palate
HP:0000273Facial grimacing
HP:0000308Microretrognathia
HP:0000453Choanal atresia
HP:0000749Paroxysmal bursts of laughter
HP:0000826Precocious puberty
HP:0000835Adrenal hypoplasia
HP:0000871Panhypopituitarism
HP:0001263Global developmental delay
HP:0001273Abnormal corpus callosum morphology
HP:0001321Cerebellar hypoplasia
HP:0001360Holoprosencephaly
HP:0001520Large for gestational age
HP:0001537Umbilical hernia
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001680Coarctation of aorta
HP:0001837Broad toe
HP:0001845Overlapping toe
HP:0002101Abnormal lung lobation
HP:0005990Thyroid hypoplasia
HP:0006695Atrioventricular canal defect
HP:0007601Midline facial capillary hemangioma
HP:0008207Primary adrenal insufficiency
HP:0008734Decreased testicular size
HP:0010564Bifid epiglottis
HP:0010821Focal emotional seizure with laughing
HP:0012165Oligodactyly
HP:0030021Auricular tag
HP:0410030Cleft lip
Очень редкий (1–4%)15
HP:0000046Small scrotum
HP:0000062Ambiguous genitalia
HP:0000243Trigonocephaly
HP:0001249Intellectual disability
HP:0001562Oligohydramnios
HP:0001883Talipes
HP:0002093Respiratory insufficiency
HP:0002139Arrhinencephaly
HP:0005684Distal arthrogryposis
HP:0008684Aplasia/hypoplasia of the uterus
HP:0010958Bilateral renal agenesis
HP:0011026Aplasia/Hypoplasia of the vagina
HP:0030010Hydrometrocolpos
HP:0030431Osteochondroma
HP:0030799Scaphocephaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)