Cardiocranial syndrome, Pfeiffer type
ORPHA:2872Malformation syndromeAutosomal dominant, Autosomal recessive, Not applicableInfancy, Neonatal
Фенотипы (HPO)34
Очень частый (80–99%)7
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0004442Sagittal craniosynostosis
HP:0012478Temporomandibular joint ankylosis
Частый (30–79%)27
HP:0000358Posteriorly rotated ears
HP:0006191Deep palmar crease
HP:0008070Sparse hair
HP:0008112Plantar flexion contractures
HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger
HP:0010487Small hypothenar eminence
HP:0010621Cutaneous syndactyly of toes
HP:0010721Abnormal hair whorl
HP:0011220Prominent forehead
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000193Bifid uvula
HP:0000268Dolichocephaly
HP:0000289Broad philtrum
HP:0000316Hypertelorism
HP:0000431Wide nasal bridge
HP:0000473Torticollis
HP:0000494Downslanted palpebral fissures
HP:0001238Slender finger
HP:0001249Intellectual disability
HP:0001537Umbilical hernia
HP:0001627Abnormal heart morphology
HP:0002705High, narrow palate
HP:0002778Abnormal trachea morphology
HP:0002876Episodic tachypnea
HP:0004322Short stature
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)