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

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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