The sister’s AIHA was difficult to manage and required splenectomy. At the age of 8 years 4/12 the brother developed systemic lupus erythemasosus which was managed with steroids and immune suppressors. [abstracts.eurospe.org]

Physical examination was normal except short stature and Cushingoid appearance of the face. Both patients were prepubertal. Both patients had AIHA, short stature, metaphyseal changes and platyspondyly compatible with SPENCD. [abstracts.eurospe.org]

sinusitis ; Restrictive ventilatory defect ; Short stature ; Spastic diplegia ; Spondylometaphyseal dysplasia ; Tubulointerstitial fibrosis ; Vitiligo Associated Genes ACP5 (Withdrawn symbols: HPAP, TRAP ) Mouse Orthologs Acp5 Source OMIM:607944 (names [mousephenotype.org]

Thus, in addition to autoimmune haemolytic anaemia, thrombocytopenia, polyarthritis, hepatitis and nephritis, the patient presented with life threatening hyperreactivity to viral infections as well as recurrent bacterial infections. [ped-rheum.biomedcentral.com]

Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present. [ncbi.nlm.nih.gov]

At 5.5 years of age, she presented with a high fever, generalized vasculitis, encephalopathy with seizures and respiratory insufficiency due to interstitial pneumonia requiring 2 days of mechanical ventilation. [ped-rheum.biomedcentral.com]

In the following months, the patients experienced recurrent infections affecting the urinary tract and upper airways as well as an episode of severe aphthous stomatitis accompanied by Quinke oedema of the face. [ped-rheum.biomedcentral.com]

IMMUNOSKELETAL SYNDROME, SPENCD Classification unclassified Phenotypes Autoimmune thrombocytopenia ; Autosomal recessive inheritance ; Cellular immunodeficiency ; Combined immunodeficiency ; Decrease in T cell count ; Hypermelanotic macule ; Hypopigmented skin [mousephenotype.org]

In addition, the girl developed recurrent petechiae of the face, erythema nodosum of the feet as well as mild sugillations of the oral mucosa despite normal platelet counts. [ped-rheum.biomedcentral.com]

At the age of 17, progressive spine stiffness associated with stooping posture developed. 3DCT scanning showed pathological transformation of the spinal enchondromas into generalized ossification and thickening of the posterior vertebral elements (vertebral [ncbi.nlm.nih.gov]

Purpura ; Recurrent otitis media ; Recurrent respiratory infections ; Recurrent sinusitis ; Restrictive ventilatory defect ; Short stature ; Spastic diplegia ; Spondylometaphyseal dysplasia ; Tubulointerstitial fibrosis ; Vitiligo Associated Genes ACP5 (Withdrawn [mousephenotype.org]

On physical examination the brother had a round face, short neck, lumber lordosis and pes planus. Height was 100 cm ( 4.43 SDS) with risomelia (arm span/height ratio: 0.97). [abstracts.eurospe.org]

Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present. [ncbi.nlm.nih.gov]

Patients with SPENCDI and neurological manifestations including spasticity, developmental delay and cerebral calcifications have been reported. We present here two siblings born to consanguineous parents with genetically proven SPENCDI. [abstracts.eurospe.org]