Immunodeficiency, and Skeletal dysplasia

Diseases related with Immunodeficiency and Skeletal dysplasia

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Skeletal dysplasia that can help you solving undiagnosed cases.

Top matches:

Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK Is also known as immunoosseous dysplasia, krakow type

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Immunodeficiency
  • Skeletal dysplasia
  • Rhizomelia


SOURCES: OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK

METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH Is also known as cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|chhv|cartilage-hair hypoplasia variant, skeletal manifestations only

Related symptoms:

  • Immunodeficiency
  • Severe short stature
  • Joint laxity
  • Hypotrichosis
  • Micromelia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH

Low match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Other less relevant matches:

Low match ALG12-CDG

ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. ALG12-CDG is caused by loss of function mutations of the gene ALG12 (22q13.33).

ALG12-CDG Is also known as cdg1g|mannosyltransferase 8 deficiency|congenital disorder of glycosylation type ig|cdgig|cdg ig|carbohydrate deficient glycoprotein syndrome type ig|cdg syndrome type ig|congenital disorder of glycosylation type 1g|cdg-ig

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG12-CDG

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Top 5 symptoms//phenotypes associated to Immunodeficiency and Skeletal dysplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Recurrent infections Muscular hypotonia Abnormal facial shape Combined immunodeficiency Pneumonia Thrombocytopenia Edema Platyspondyly Severe short stature Rhizomelia Scoliosis Respiratory tract infection Cellular immunodeficiency Epiphyseal dysplasia Osteopenia Sepsis Lymphadenopathy Intrauterine growth retardation Recurrent bacterial infections Kyphoscoliosis Kyphosis Autoimmunity Irregular vertebral endplates Hypothyroidism Short metacarpal Micromelia Eosinophilia Diarrhea Intellectual disability, mild Seizures Hepatomegaly Hyperlordosis Failure to thrive Brachydactyly Depressed nasal bridge Motor delay Metaphyseal chondrodysplasia

Rare Symptoms - Less than 30% cases

Eczema Coxa valga Decreased antibody level in blood Bone marrow hypocellularity Sandal gap Progressive microcephaly Limb undergrowth Neoplasm Coxa vara Premature birth Metaphyseal widening Recurrent respiratory infections Midface retrusion Cardiomyopathy Microdontia Respiratory distress Neutropenia Spondyloepiphyseal dysplasia Encephalitis Abnormal lung morphology Recurrent otitis media Lumbar hyperlordosis Hypermelanotic macule Thin upper lip vermilion Arthritis Abnormality of the skeletal system Narrow nose Narrow chest Vomiting Hypoplasia of the capital femoral epiphysis Genu varum Lymphopenia Metaphyseal sclerosis Single transverse palmar crease Talipes equinovarus Malabsorption Steatorrhea Nephritis Protuberant abdomen Erythroderma Splenomegaly Abnormality of the metaphysis Severe combined immunodeficiency Short neck Anteverted nares Hypotrichosis Disproportionate short-limb short stature Fever Lymphoma Waddling gait Nephrotic syndrome Cognitive impairment Inflammatory abnormality of the skin Short toe Recurrent viral infections Hepatosplenomegaly Myopia Ovoid vertebral bodies Metaphyseal irregularity Microcephaly Metaphyseal dysplasia Clinodactyly Joint laxity Abnormality of the kidney Postnatal growth retardation Multiple carpal ossification centers Proximal fibular overgrowth Retinal dystrophy Downturned corners of mouth Broad first metatarsal Radioulnar dislocation Medial deviation of the foot Smooth philtrum Long philtrum Downslanted palpebral fissures Fatigue Renal cyst Ventricular septal defect Tachycardia Joint stiffness Hypogonadism Short distal phalanx of finger Agenesis of corpus callosum Flat face Clinodactyly of the 5th finger Splayed fingers Round face Abdominal distention Abnormality of the hand Horseshoe kidney Joint dislocation Broad femoral neck Microretrognathia Coronal cleft vertebrae Short metatarsal Short femoral neck Flattened epiphysis Generalized osteoporosis Thoracic hypoplasia Congenital glaucoma Generalized joint laxity Flat acetabular roof Cystic hygroma Open angle glaucoma Hypoplastic vertebral bodies Supernumerary metacarpal bones Wide intermamillary distance Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Nail dysplasia Large joint dislocations Depressed nasal ridge Vertebral clefting Multiple joint dislocation Advanced ossification of carpal bones Osteoarthritis Long upper lip Bowing of the long bones Broad thumb Short 1st metacarpal Abnormal T cell morphology Underdeveloped nasal alae Coarse hair Multiple cafe-au-lait spots High pitched voice Emphysema Focal segmental glomerulosclerosis Melanocytic nevus Glomerulonephritis Glomerulosclerosis Chronic kidney disease Reduced bone mineral density Abnormality of the vasculature Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Fine hair Glomerulopathy Transient ischemic attack Decreased testicular size Arteriosclerosis Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Abnormal immunoglobulin level Moyamoya phenomenon Multiple lentigines Mucopolysacchariduria Right ventricular cardiomyopathy Thoracic kyphosis Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Intellectual disability, profound Migraine Cardiomegaly Hip contracture Hypertension Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Prominent eyelashes Humoral immunodeficiency Short digit Pulmonary edema Long palpebral fissure Congestive heart failure Partial agenesis of the corpus callosum Pleural effusion Tachypnea Narrow palpebral fissure Finger clinodactyly Recurrent pneumonia Meningitis Sinusitis Cerebellar atrophy Abnormality of the dentition Brain atrophy Anterior pituitary dysgenesis Gliosis Abnormal cerebellum morphology Nephropathy Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Astigmatism Premature arteriosclerosis Hip dislocation Renal insufficiency Corneal opacity Stroke Nephrosclerosis Scarring Developmental regression Proteinuria Dementia Headache High forehead Pes planus Specific learning disability Proptosis Short humerus Generalized edema Prolonged partial thromboplastin time Short femur Short tibia IgG deficiency Abnormality of immune system physiology Hypoplasia of the radius Hypertelorism Scrotal hypoplasia Hypocalcemia Abnormality of the genital system Severe global developmental delay Short philtrum Abnormality of the pinna Micropenis Butterfly vertebrae Nystagmus Blindness Prominent nose Delayed ossification of carpal bones Hepatic cysts Dislocated radial head Disproportionate short stature Neurodevelopmental delay Opisthotonus Generalized-onset seizure Full cheeks Hyperreflexia Broad nasal tip Anal atresia Craniosynostosis Muscular hypotonia of the trunk Abnormality of the nervous system Coarse facial features Pectus excavatum Hypospadias Hydrocephalus Cervical instability Cone-shaped epiphyses of the phalanges of the hand Dry skin Pruritus Papule Skin rash Alopecia Metaphyseal cupping of metacarpals Abnormality of the immune system Chronic diarrhea Abnormality of the vertebral column Abnormality of pelvic girdle bone morphology Short long bone Abnormality of the hair Spondyloepimetaphyseal dysplasia Mesomelia Hypercalcemia Thickened skin Increased body weight Feeding difficulties Recurrent fungal infections Sensorineural hearing impairment Hearing impairment Severe B lymphocytopenia Desquamation of skin soon after birth Abnormal lymphocyte morphology Generalized lymphadenopathy Protracted diarrhea B lymphocytopenia Shock Hypoplasia of the thymus Hypoproteinemia Hashimoto thyroiditis Thyroiditis Aplasia/Hypoplasia of the eyebrow Leukocytosis Scaling skin Narrow greater sacrosciatic notches Severe platyspondyly Narrow mouth Multiple lipomas Recurrent aphthous stomatitis Acute monocytic leukemia Aplastic anemia Exocrine pancreatic insufficiency Acute myeloid leukemia Myeloid leukemia Short thorax Persistence of hemoglobin F Neonatal respiratory distress Myelodysplasia Leukopenia Nephrocalcinosis Type I diabetes mellitus Short ribs Decreased liver function Anterior rib cupping Paroxysmal nocturnal hemoglobinuria Apraxia Macrocephaly Respiratory failure Glaucoma Osteoporosis Obesity Dilatation Malar flattening Short nose Epicanthus Enlargement of the costochondral junction Micrognathia Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Pancytopenia Generalized muscle weakness Spasticity Purpura Autoimmune hemolytic anemia Basal ganglia calcification Scleroderma Restrictive ventilatory defect Spastic diplegia Rheumatoid arthritis Systemic lupus erythematosus Spastic tetraplegia Autoimmune thrombocytopenia Hepatitis Cerebral calcification Tetraplegia Hemolytic anemia Abnormality of the cerebral white matter Arthralgia Low-set ears Recurrent sinusitis Vitiligo Ichthyosis Hypopigmented skin patches on arms Carious teeth Leukemia Small for gestational age Pectus carinatum Elevated hepatic transaminase Delayed skeletal maturation Gait disturbance Arthralgia/arthritis Barrel-shaped chest Progressive spastic quadriplegia Madelung deformity Decrease in T cell count Tubulointerstitial fibrosis Spondylometaphyseal dysplasia Immune dysregulation Juvenile rheumatoid arthritis Lateral displacement of the femoral head


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