Rhizomelic dysplasia, Patterson-Lowry type

MedGen UID:: 321940
•Concept ID:: C1832359
•: Disease or Syndrome

Synonym:	Patterson Lowry syndrome
SNOMED CT:	Rhizomelic dysplasia of Patterson Lowry type (715505002); Rhizomelic dysplasia Patterson Lowry type (715505002)

Monarch Initiative:	MONDO:0011079
OMIM®:	601438
Orphanet:	ORPHA2831

Definition

A rare primary bone dysplasia with characteristics of short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpia. [from SNOMEDCT_US]

Clinical features

From HPO

Brachydactyly

MedGen UID:: 67454
•Concept ID:: C0221357
•: Congenital Abnormality

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

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Short humerus

MedGen UID:: 316907
•Concept ID:: C1832117
•: Congenital Abnormality

Underdevelopment of the humerus.

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Short metacarpal

MedGen UID:: 323064
•Concept ID:: C1837084
•: Anatomical Abnormality

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.

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Short metatarsal

MedGen UID:: 341358
•Concept ID:: C1849020
•: Finding

Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.

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Rhizomelia

MedGen UID:: 357122
•Concept ID:: C1866730
•: Congenital Abnormality

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).

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Deformed humeral heads

MedGen UID:: 870700
•Concept ID:: C4025154
•: Anatomical Abnormality

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Coxa vara

MedGen UID:: 1790477
•Concept ID:: C5551440
•: Anatomical Abnormality

Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.

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Platyspondyly