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

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Acronym:
SPENCDI

SAID group:
Interferon Mediated Autoinflammatory Diseases

Gene:
ACP5

Inheritance:
Autosomal recessive.

Ethnicity:
Not noted.

Frequency:
Unknown-rare

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]

Neurologic:
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]

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

Ophthalamic:
Not noted [109] [110]

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

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

Lymphatic:
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]

Vasculitis:
Not noted. [109] [112]

Amyloidosis:
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:
Spondyloenchondrodysplasia with immune dysregulation, SPENCDI, Roifman immunoskeletal syndrome combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia, Roifman-Costa Syndrome, immunodeficiency, ACP5, Recurrent respiratory infections, bone deformities, cartilage deformities, low-set ears, pointy nose, hyperpigmented macules, vitiligo, Raynaud's, macules, Sjögren, scleroderma, severe varicella, varicella, encephalitis, spasticity, cognitive delay, developmental delay, mental delay, retardation, cognitive deficits, cerebral calcifications, calcification, otitis media, ear infection, pulmonary, respiratory, sinus infection, fibrosis, thyroid, growth delay, restrictive lung disease, sinusitis, pneumonia, interstitial fibrosis, idiopathic thrombocytopenic purpura, ITP, Crohn's, intercolitis, colitis, hypothyroiditis, hypothyroid, lymphadenopathy, systemic lupus erythematosis, SLE, short stature, bone deformities, spondylometaphyseal dysplasia, sclerosed metaphyses, platyspondyly, juvenile rheumatoid arthritis, JRA, polymyositis, cartilage, nose, craniofacial, cranifofacial anomaly,


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