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Items: 3

1.

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

RERE-related disorders are characterized by neurodevelopmental problems with or without structural anomalies of the eyes, heart, kidneys, and genitourinary tract and mild sensorineural hearing loss. Hypotonia and feeding problems are common among affected individuals. Developmental delay and intellectual disability range from mild to profound. Behavior problems may include attention-deficit/hyperactivity disorder, self-injurious behavior, and autism spectrum disorder. A variety of eye anomalies (coloboma, optic nerve anomalies, microphthalmia, and/or Peter's anomaly) and vision issues (myopia, anisometropia, astigmatism, exotropia, esotropia) have been reported. Congenital heart defects, most commonly septal defects, have also been described. Genitourinary abnormalities include vesicoureteral reflux, and cryptorchidism and hypospadias in males. Sensorineural hearing loss can be unilateral or bilateral. [from GeneReviews]

MedGen UID:
934739
Concept ID:
C4310772
Disease or Syndrome
2.

Mesoaxial synostotic syndactyly with phalangeal reduction

Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes (Malik et al., 2014). [from OMIM]

MedGen UID:
324459
Concept ID:
C1836206
Disease or Syndrome
3.

3-4 finger osseus syndactyly

Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones. [from HPO]

MedGen UID:
346463
Concept ID:
C1856889
Finding

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