Oculocerebral hypopigmentation syndrome of Preus

MedGen UID:: 419131
•Concept ID:: C2931646
•: Disease or Syndrome

Synonyms:	Oculocerebral Hypopigmentation Syndrome of Preus; Oculocerebral hypopigmentation syndrome type Preus
SNOMED CT:	Oculocerebral hypopigmentation syndrome of Preus type (716174001); Oculocerebral hypopigmentation syndrome of Preus (716174001)

Monarch Initiative:	MONDO:0009766
OMIM®:	257790
Orphanet:	ORPHA2720

Definition

A rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. [from SNOMEDCT_US]

Clinical features

From HPO

Growth delay

MedGen UID:: 99124
•Concept ID:: C0456070
•: Pathologic Function

A deficiency or slowing down of growth pre- and postnatally.

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Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

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Hypochromic anemia

MedGen UID:: 8065
•Concept ID:: C0002884
•: Disease or Syndrome

A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.

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Dolichocephaly

MedGen UID:: 65142
•Concept ID:: C0221358
•: Congenital Abnormality

An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.

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Microdontia

MedGen UID:: 66008
•Concept ID:: C0240340
•: Congenital Abnormality

Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.

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High palate

MedGen UID:: 66814
•Concept ID:: C0240635
•: Congenital Abnormality

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

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High, narrow palate