Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome- MedGen UID:
- 330396
- •Concept ID:
- C1832167
- •
- Disease or Syndrome
Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera (Patel et al., 2014).
X-linked intellectual disability-retinitis pigmentosa syndrome- MedGen UID:
- 336862
- •Concept ID:
- C1845136
- •
- Disease or Syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.
Congenital stationary night blindness autosomal dominant 2- MedGen UID:
- 361814
- •Concept ID:
- C1876182
- •
- Disease or Syndrome
Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.
Tessadori-van Haaften neurodevelopmental syndrome 1- MedGen UID:
- 1810348
- •Concept ID:
- C5676922
- •
- Disease or Syndrome
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-1 (TEBIVANED1) is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose. Other variable neurologic and systemic features may also occur (Tessadori et al., 2017).
Genetic Heterogeneity of Tessadori-van Haaften Neurodevelopmental Syndrome
See also TEBIVANED2 (619759), caused by mutation in the H4C11 gene (602826); TEBIVANED3 (619950), caused by mutation in the H4C5 gene (602830); and TEBIVANED4 (619951), caused by mutation in the H4C9 gene (602833).
Stickler syndrome, IIa 6- MedGen UID:
- 1823980
- •Concept ID:
- C5774207
- •
- Disease or Syndrome
Stickler syndrome type VI (STL6) is characterized by early-onset progressive hearing loss and progressive myopia, with variable manifestation of facial dysmorphism and skeletal anomalies (Nixon et al., 2019; Rad et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of Stickler syndrome, see STL1 (108300).
Tessadori-Van Haaften neurodevelopmental syndrome 3- MedGen UID:
- 1824083
- •Concept ID:
- C5774310
- •
- Disease or Syndrome
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-3 (TEBIVANED3) is characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. More variable features include hypotonia, microcephaly, and dysmorphic facies. The severity and manifestations of the disorder are highly variable (Tessadori et al., 2022).
For a discussion of genetic heterogeneity of Tessadori-Bicknell-van Haaften neurodevelopmental disorder, see TEBIVANED1 (619758).