Table 2. [Frequency of Physical, Radiographic, and...]. - GeneReviews®

Feature	% of Persons w/Feature	Comment
Skeletal features	Disproportionate short stature	~99%	Prenatal onset (IUGR) in 70%
Vertebral anomalies	>75%	Ovoid shaped; dorsal flattening
Hypoplastic pelvis	65%
Epiphyseal dysplasia	~90%
Renal disease	Proteinuria or nephropathy	99%	Steroid resistant
FSGS	83%
Immune deficiency	T cell deficiency	80%
Neutropenia	~40%	Bone marrow hypoplasia of neutrophil lineage may occur w/normal peripheral blood neutrophil counts.
Recurrent infections	60%-80%
Autoimmune disease	Anemia	~60%	May also be secondary to bone marrow failure
Thrombocytopenia	25%
Other	Rare	Enteropathy, pericarditis
Physical features	Characteristic facial features	~90%	Triangular facies; wide, depressed nasal bridge, broad nasal tip
Hyperpigmented macules	70%
Fine &/or sparse hair	63%
Dental anomalies	>60%	Microdontia, hypodontia
Corneal opacities	~25%
Development	Developmental delay	34%
Academic delay	28%
Vasculature	Headaches	47%
TIAs	41%
Strokes	43%
Endocrine	Hypothyroidism	~50%
Hematologic	Bone marrow failure	5%-10%	Contributes to neutropenia, anemia, & thrombocytopenia
Lymphoproliferative disease / Malignancy	Lymphoma/leukemia (ALL)	<10%
Osseous solid tumors	Rare

Feature

% of Persons
w/Feature

Comment

Skeletal features

Disproportionate short stature

~99%

Prenatal onset (IUGR) in 70%

Vertebral anomalies

>75%

Ovoid shaped; dorsal flattening

Hypoplastic pelvis

65%

Epiphyseal dysplasia

~90%

Renal disease

Proteinuria or nephropathy

99%

Steroid resistant

FSGS

83%

Immune deficiency

T cell deficiency

80%

Neutropenia

~40%

Bone marrow hypoplasia of neutrophil lineage may occur w/normal peripheral blood neutrophil counts.

Recurrent infections

60%-80%

Autoimmune disease

Anemia

~60%

May also be secondary to bone marrow failure

Thrombocytopenia

25%

Other

Rare

Enteropathy, pericarditis

Physical features

Characteristic facial features

~90%

Triangular facies; wide, depressed nasal bridge, broad nasal tip

Hyperpigmented macules

70%

Fine &/or sparse hair

63%

Dental anomalies

>60%

Microdontia, hypodontia

Corneal opacities

~25%

Development

Developmental delay

34%

Academic delay

28%

Vasculature

Headaches

47%

TIAs

41%

Strokes

43%

Endocrine

Hypothyroidism

~50%

Hematologic

Bone marrow failure

5%-10%

Contributes to neutropenia, anemia, & thrombocytopenia

Lymphoproliferative
disease / Malignancy

Lymphoma/leukemia (ALL)

<10%

Osseous solid tumors

Rare

From: Schimke Immunoosseous Dysplasia

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

GeneReviews by Title

Bookshelf

GeneReviews^® [Internet].

Table 2.

Views

Bulk Download

GeneReviews Links

Similar articles in PubMed

Recent Activity