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Items: 5

1.

Toriello-Lacassie-Droste syndrome

Oculoectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals exhibit congenital scalp lesions which are atrophic, nonscarring, hairless regions that are often multiple and asymmetric in distribution, and may have associated hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and, rarely, epidermal nevus-like lesions. Epibulbar dermoids may be uni- or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid and rarely optic nerve or retinal changes or microphthalmia can be present. Phenotypic expression is highly variable, and various other abnormalities have occasionally been reported, including growth failure, lymphedema, and cardiovascular defects, as well as neurodevelopmental symptoms such as developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older (summary by Boppudi et al., 2016). [from OMIM]

MedGen UID:
333068
Concept ID:
C1838329
Disease or Syndrome
2.

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

The AMME complex is an X-linked contiguous gene deletion syndrome with features of Alport syndrome (see 301050), impaired intellectual development, midface hypoplasia, and elliptocytosis in affected males (summary by Meloni et al., 2002). [from OMIM]

MedGen UID:
337424
Concept ID:
C1846242
Disease or Syndrome
3.

Usmani-Riazuddin syndrome, autosomal dominant

Autosomal dominant Usmani-Riazzudin syndrome (USRISD) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities, most commonly aggressive behavior. More variable additional features may include seizures and distal limb anomalies (summary by Usmani et al., 2021). [from OMIM]

MedGen UID:
1794162
Concept ID:
C5561952
Disease or Syndrome
4.

Neurodevelopmental disorder with hypotonia and brain abnormalities

Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood. Some affected individuals may have feeding difficulties, seizures, behavioral abnormalities, and nonspecific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum defects, cerebellar defects, and decreased white matter volume. There is significant phenotypic variability (summary by Duncan et al., 2021). [from OMIM]

MedGen UID:
1794187
Concept ID:
C5561977
Disease or Syndrome
5.

Anisometropia

Inequality of refractive power of the two eyes. [from HPO]

MedGen UID:
8099
Concept ID:
C0003081
Disease or Syndrome
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