Hypertelorism, Teebi type
human disease
Facts
7 properties- Instance of
- class of disease
- Subclass of
- midface dysplasia, hypertelorism, multiple congenital anomalies/dysmorphic syndrome without intellectual disability, developmental defect during embryogenesis
- Age of onset
- neonatal onset[8]
- Has phenotype
- congenital onset, Thick eyebrow, cryptorchidism, Round face, hydrocele, shawl scrotum, micrognathism, anteverted nares, malocclusion, autism spectrum disorder, global developmental delay, Bilateral ptosis, aortic root aneurysm, Sagittal craniosynostosis, Hypopigmented macule, renal ectopia, brachycephaly, pectus excavatum, tetralogy of Fallot, 46,XX disorders of sex development, heart arrhythmia[9][10][11][12][13][14][15][16][17][18][19][20][21][22]
- P14914
- D01519[23]
- Prevalence
- +0.000001[6]
🏷️ Also known as
en Teebi syndrome
en brachycephalofrontonasal dysplasia
en Craniofrontonasal dysplasia, Teebi type
en craniofrontonasal syndrome Teebi type
en Hypertelorism, Teebi type
en Teebi hypertelorism syndrome
de Hypertelorismus vom Typ Teebi
fr Dysplasie brachy-céphalo-fronto-nasale
fr hypertélorisme de Teebi
🔖 Identifiers · 6
- ICD-10-CM
- Q87.0
- Mondo ID
- MONDO_0022887
- OMIM ID
- 145420
- Orphanet ID
- 1519
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