Pseudoprogeria syndrome

MedGen UID:: 163218
•Concept ID:: C0796125
•: Disease or Syndrome

Synonyms:	Absent eyebrows and eyelashes with mental retardation; Mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose
SNOMED CT:	Hall Berg Rudolph syndrome (733086003); Pseudoprogeria syndrome (733086003); Absent eyebrows and eyelashes with intellectual disability syndrome (733086003)
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0008694
OMIM®:	200130
Orphanet:	ORPHA2985

Definition

Syndrome with characteristics of intellectual deficit associated with progressive spastic quadriplegia, microcephaly, and glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. [from SNOMEDCT_US]

Clinical features

From HPO

Progressive spastic quadriplegia

MedGen UID:: 347944
•Concept ID:: C1859736
•: Finding

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Encephalocele

MedGen UID:: 1646412
•Concept ID:: C4551722
•: Congenital Abnormality

A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.

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Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

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Convex nasal ridge

MedGen UID:: 66809
•Concept ID:: C0240538
•: Finding

Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.

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Absent eyebrow

MedGen UID:: 98133
•Concept ID:: C0431448
•: Congenital Abnormality

Absence of the eyebrow.

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Short nose

MedGen UID:: 343052
•Concept ID:: C1854114
•: Finding

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.

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Absent eyelashes

MedGen UID:: 334299
•Concept ID:: C1843005
•: Congenital Abnormality

Lack of eyelashes.

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Glaucoma

MedGen UID:: 42224
•Concept ID:: C0017601
•: Disease or Syndrome

Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.

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