Spondyloenchondrodysplasia with immune dysregulation (SPENCDI); aka Roifman immunoskeletal syndrome combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia; or Roifman-Costa Syndrome

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SAID group:
Interferon Mediated Autoinflammatory Diseases


Autosomal recessive.

Not noted.


Timing of symptoms:
Recurrent respiratory infections, bone and cartilage deformities, low-set ears, pointy nose noted early in life. [108] [109]

Age of onset:
Onset of symptoms in infancy, childhood or adolescence. [108] [109]

Skin cutaneous:
Hyperpigmented macules, vitiligo. Narrow, pointy nose. Low-set ears. High risk for severe varicella infection. [109] Some with symptoms of Raynaud's. [111] One case with Sjögren syndrome-like symptoms and severe scleroderma. [112]

Most patients do not have neurologic involvement. One case of fatal encephalitis. [109] Some cases with spasticity, cognitive delay or deficits, and/or developmental delay, and cerebral calcifications (late-onset). [109] [110]

Normal hearing. Recurrent or frequent otitis media. Low-set ears. [109]

Not noted [109] [110]

Recurrent respiratory infections (sinusitis, pneumonia), restrictive lung disease, and/or interstitial fibrosis. Idiopathic thrombocytopenic purpura (ITP). [109]

Some have Crohn's disease, and diarrhea. One case of entercolitis. Patients are at risk for concurrent autoimmune diseases. Hypothyroiditis. [109]

Lymphadenopathy. [109] Idiopathic thrombocytopenic purpura (ITP), symptoms of systemic lupus erythematosis (SLE) and other autoimmune diseases. [109]

Joints bones muscles cartilage:
Short stature. Bone deformities: Spondylometaphyseal dysplasia. Irregular, sclerosed bilateral distal metaphyses of the radius/ulna, femur, and proximal fibula. Spinal defects: platyspondyly, irregularities in the vertebral endplates. [109] Cartilage is affected (ears and nose too). [108] Some with concurrent Juvenile Rheumatoid Arthritis (JRA). One case with polymyositis. [112]

Not noted. [109] [112]

Not noted. [109] [112]

Abnormal labs:
Normal or elevated IgG levels. Decreased circulating T cells. Hypothyroidism. Idiopathic thrombocytopenic purpura (ITP). Humoral and celular immunodeficiency. [109]

Search Keywords:
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