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Lowry Wood syndrome(LWS)

MedGen UID:
162899
Concept ID:
C0796021
Disease or Syndrome
Synonyms: Epiphyseal dysplasia, microcephaly and nystagmus; LWS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 226960
Orphanet: ORPHA1824

Definition

A syndrome multiple epiphyseal dysplasia (MED) microcephaly, and nystagmus with retinitis pigmentosa, and mental retardation in some cases. [from MCA/MR]

Clinical features

Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Abnormality of retinal pigmentation
MedGen UID:
350681
Concept ID:
C1862475
Finding
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Limitation in visual functions.
Astigmatism
MedGen UID:
504459
Concept ID:
CN000451
Finding
Astigmatism describes a refractive error characterized by a difference in the horizontal and vertical curvature of the cornea.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Elbow dislocation
MedGen UID:
404765
Concept ID:
C2720437
Injury or Poisoning
Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
A small/hypoplastic or absent/aplastic radius.
Patellar dislocation
MedGen UID:
505429
Concept ID:
CN002712
Finding
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
354608
Concept ID:
C1861866
Finding
Absence or underdevelopment of the corpus callosum.
Cognitive impairment
MedGen UID:
451875
Concept ID:
CN117436
Finding
Abnormality in the process of thought including the ability to process information.
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Squared iliac bones
MedGen UID:
324963
Concept ID:
C1838186
Finding
A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Irregular epiphyses
MedGen UID:
337584
Concept ID:
C1846449
Finding
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
Small epiphyses
MedGen UID:
339612
Concept ID:
C1846803
Finding
Reduction in the size or volume of epiphyses.
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Elbow dislocation
MedGen UID:
404765
Concept ID:
C2720437
Injury or Poisoning
Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
A small/hypoplastic or absent/aplastic radius.
Epiphyseal dysplasia
MedGen UID:
505320
Concept ID:
CN002415
Finding
Patellar dislocation
MedGen UID:
505429
Concept ID:
CN002712
Finding
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLowry Wood syndrome
Follow this link to review classifications for Lowry Wood syndrome in Orphanet.

Recent clinical studies

Diagnosis

Yamamoto T, Tohyama J, Koeda T, Maegaki Y, Takahashi Y
Am J Med Genet 1995 Mar 13;56(1):6-9. doi: 10.1002/ajmg.1320560103. PMID: 7747786
Hankenson LG, Ozonoff MB, Cassidy SB
Am J Med Genet 1989 Jul;33(3):336-40. doi: 10.1002/ajmg.1320330310. PMID: 2801767

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