Table 3. [Genes of Interest in the Differential Diagnosis of Caffey Disease]. - GeneReviews®

Gene(s)	Disorder	MOI	Features of Disorder
ANTXR2	Hyaline fibromatosis syndrome	AR	Presents w/irritability, poor feeding, fever, & soft-tissue swelling	Progressive joint contractures, & often severe motor disability, thickened skin, & hyperpigmented macules/patches over bony prominences of joints
FGF23 GALNT3 KL	Hyperphosphatemic familial tumoral calcinosis (HFTC)	AR	Cortical hyperostosis	Hyperphosphatemia
GLB1 GNPTAB	Mucolipidosis II (GNPTAB-Related Disorders) & type I (infantile) GM1 gangliosidosis (GLB1-Related Disorders)	AR	Mucolipidosis II, type I GM1 gangliosidosis, & other storage diseases presenting in early infancy may be characterized by periosteal cloaking.	The involvement of the metaphysis & generalized findings of storage disorders differentiate these disorders from Caffey disease.
TGFB1	Camurati-Engelmann disease	AD	Bone pain, hyperostosis of diaphyses of long bones	Proximal muscle weakness, limb pain, a wide-based, waddling gait, & joint contractures; facial features such as macrocephaly, frontal bossing, enlargement of mandible, proptosis, & cranial nerve impingement resulting in facial palsy

Gene(s)

Disorder

MOI

Features of Disorder

Overlapping w/
Caffey Disease

Distinguishing from Caffey Disease

ANTXR2

Hyaline fibromatosis syndrome

Presents w/irritability, poor feeding, fever, & soft-tissue swelling

Progressive joint contractures, & often severe motor disability, thickened skin, & hyperpigmented macules/patches over bony prominences of joints

FGF23
GALNT3
KL

Hyperphosphatemic familial tumoral calcinosis (HFTC)

Cortical hyperostosis

Hyperphosphatemia

GLB1
GNPTAB

Mucolipidosis II (GNPTAB-Related Disorders) & type I (infantile) GM1 gangliosidosis (GLB1-Related Disorders)

Mucolipidosis II, type I GM1 gangliosidosis, & other storage diseases presenting in early infancy may be characterized by periosteal cloaking.

The involvement of the metaphysis & generalized findings of storage disorders differentiate these disorders from Caffey disease.

TGFB1

Camurati-Engelmann disease

Bone pain, hyperostosis of diaphyses of long bones

Proximal muscle weakness, limb pain, a wide-based, waddling gait, & joint contractures; facial features such as macrocephaly, frontal bossing, enlargement of mandible, proptosis, & cranial nerve impingement resulting in facial palsy

From: Caffey Disease

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

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