Weismann-Netter syndrome(WNS)

MedGen UID:: 350610
•Concept ID:: C1862172
•: Disease or Syndrome

Synonyms:	Bowing of legs, anterior with dwarfism; Toxopachyosteose diaphysaire tibio-peroniere
SNOMED CT:	Weismann Netter syndrome (715532007); Anterior bowing of legs with dwarfism (715532007)

Monarch Initiative:	MONDO:0007209
OMIM®:	112350
Orphanet:	ORPHA3344

Definition

The diagnostic hallmarks of Weismann-Netter syndrome (WNS) are anterior bowing of the diaphyses of the tibia and fibula, broadening or 'tibialization' of the fibula, posterior cortical thickening of both bones, and short stature. The diaphyses of other long bones may be similarly affected, but usually to a milder degree. Some WNS patients have also displayed mental retardation (summary by Peippo et al., 2009). [from OMIM]

Clinical features

From HPO

Severe short stature

MedGen UID:: 3931
•Concept ID:: C0013336
•: Disease or Syndrome

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

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Kyphosis

MedGen UID:: 44042
•Concept ID:: C0022821
•: Anatomical Abnormality

Exaggerated anterior convexity of the thoracic vertebral column.

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Scoliosis

MedGen UID:: 11348
•Concept ID:: C0036439
•: Disease or Syndrome

The presence of an abnormal lateral curvature of the spine.

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Anterior tibial bowing

MedGen UID:: 537020
•Concept ID:: C0240920
•: Anatomical Abnormality

An abnormal anterior bending or curvature of the tibia.

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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.

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Delayed eruption of permanent teeth

MedGen UID:: 340353
•Concept ID:: C1849540
•: Finding

Delayed tooth eruption affecting the secondary dentition.

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Horizontal sacrum

MedGen UID:: 342531
•Concept ID:: C1850558
•: Finding

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Calvarial hyperostosis

MedGen UID:: 350147
•Concept ID:: C1863351
•: Finding

Excessive growth of the calvaria.

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Lateral femoral bowing

MedGen UID:: 401070
•Concept ID:: C1866737
•: Finding

A lateral bending or abnormal curvature of the femur.

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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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Small sella turcica