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Items: 5

1.

Nicolaides-Baraitser syndrome

Nicolaides-Baraitser syndrome (NCBRS) is characterized by sparse scalp hair, prominence of the inter-phalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly, seizures, and developmental delay / intellectual disability. Seizures are of various types and can be difficult to manage. Developmental delay / intellectual disability (ID) is severe in nearly a half, moderate in a third, and mild in the remainder. Nearly a third never develop speech or language skills. [from GeneReviews]

MedGen UID:
220983
Concept ID:
C1303073
Disease or Syndrome
2.

Pierpont syndrome

Pierpont syndrome (PRPTS) is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011). [from OMIM]

MedGen UID:
356049
Concept ID:
C1865644
Disease or Syndrome
3.

Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies

EDFAOB is characterized by linear hypopigmentation and craniofacial asymmetry in association with ocular, dental, and acral anomalies. Brain imaging has revealed some abnormalities, including diffuse cystic leukoencephalopathy and mildly enlarged lateral ventricles, but patients show no intellectual or neurologic impairment (Vabres et al., 2019). [from OMIM]

MedGen UID:
1684719
Concept ID:
C5231477
Disease or Syndrome
4.

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. [from ORDO]

MedGen UID:
355803
Concept ID:
C1866802
Disease or Syndrome
5.

Unilateral narrow palpebral fissure

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only. [from HPO]

MedGen UID:
356621
Concept ID:
C1866805
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