Immunodeficiency, and Limb undergrowth

Diseases related with Immunodeficiency and Limb undergrowth

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


Top matches:

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK


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

Low match METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH


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 IMMUNODEFICIENCY 43; IMD43


IMMUNODEFICIENCY 43; IMD43 Is also known as beta-2-microglobulin deficiency|b2m deficiency|hypoproteinemia, hypercatabolic

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Diabetes mellitus
  • Proteinuria
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY 43; IMD43

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Other less relevant matches:

Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Low match INFANTILE SYSTEMIC HYALINOSIS


Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

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

Low match IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Low match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


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

Low match DESBUQUOIS DYSPLASIA 1; DBQD1


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

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Top 5 symptoms//phenotypes associated to Immunodeficiency and Limb undergrowth

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Severe short stature Uncommon - Between 30% and 50% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Micromelia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Immunodeficiency and Limb undergrowth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Kyphoscoliosis Muscular hypotonia Intellectual disability Rhizomelia Abnormal facial shape Generalized hypotonia Recurrent respiratory infections Midface retrusion Growth delay Recurrent infections High forehead Kyphosis Sensorineural hearing impairment Hearing impairment Platyspondyly Brachydactyly

Rare Symptoms - Less than 30% cases


Joint laxity Short metacarpal Hypothyroidism Epiphyseal dysplasia Arthritis Sandal gap Seizures Progressive microcephaly Hyperlordosis Recurrent bacterial infections Abnormal lung morphology Decreased antibody level in blood Failure to thrive Feeding difficulties Talipes equinovarus Cardiomyopathy Macrocephaly Short neck Osteoporosis Osteopenia Coarse facial features Joint stiffness Short philtrum Respiratory tract infection Edema Neoplasm Micropenis Small for gestational age Combined immunodeficiency Obesity Motor delay Diabetes mellitus Broad nasal tip Sepsis Inflammatory abnormality of the skin Subcutaneous nodule Microcephaly Clinodactyly Intrauterine growth retardation IgG deficiency Anemia Irregular vertebral endplates Depressed nasal bridge Metaphyseal dysplasia Thrombocytopenia Scoliosis Hypertelorism Metaphyseal irregularity Nystagmus Cataract Lymphopenia Abnormality of the skeletal system Blindness Coxa valga Intellectual disability, mild Genu varum Cognitive impairment Postnatal growth retardation Hypoplastic vertebral bodies Narrow chest Vertebral clefting Long upper lip Advanced ossification of carpal bones Dilatation Multiple joint dislocation Bifid distal phalanx of the thumb Advanced tarsal ossification Partial duplication of the distal phalanx of the hallux Phalangeal dislocation Supernumerary metacarpal bones Multiple carpal ossification centers Proximal fibular overgrowth Broad first metatarsal Radioulnar dislocation Large joint dislocations Congenital glaucoma Flattened epiphysis Waddling gait Bowing of the long bones Osteoarthritis Depressed nasal ridge Wide intermamillary distance Narrow mouth Proptosis Nail dysplasia Round face Horseshoe kidney Pes planus Abnormality of the kidney Abdominal distention Renal cyst Short distal phalanx of finger Flat face Smooth philtrum Broad thumb Joint dislocation Open angle glaucoma Cystic hygroma Broad femoral neck Coronal cleft vertebrae Generalized osteoporosis Short 1st metacarpal Generalized joint laxity Flat acetabular roof Protuberant abdomen Thoracic hypoplasia Coxa vara Short femoral neck Metaphyseal widening Abnormality of the hand Glaucoma Respiratory failure Short metatarsal Disproportionate short-limb short stature Microretrognathia Medial deviation of the foot Rigidity Splayed fingers Bone marrow hypocellularity Dysdiadochokinesis Slurred speech Goiter Leukopenia Acanthosis nigricans Short chin Hypergonadotropic hypogonadism Unilateral renal agenesis Insulin resistance Broad-based gait Cutaneous photosensitivity Renal hypoplasia Epidermal acanthosis Apraxia Hypotelorism Postural tremor Bilateral cryptorchidism Bradykinesia Low hanging columella Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Shuffling gait Misalignment of teeth Increased circulating gonadotropin level Sensory axonal neuropathy Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification Ectopic kidney High pitched voice Sloping forehead Pigmentary retinopathy Ataxia Hypoplasia of the corpus callosum Hypogonadism Pes cavus Babinski sign Inguinal hernia Hernia Long philtrum Ventriculomegaly Deeply set eye Gait disturbance Tremor Dysarthria Peripheral neuropathy Delayed speech and language development Cryptorchidism Strabismus Mandibular prognathia Short nose Decreased testicular size Long face Convex nasal ridge Renal agenesis Progressive cerebellar ataxia Triangular face Polyneuropathy Sensory neuropathy Falls Dysmetria Sparse hair Synophrys Hypermetropia Dilated cardiomyopathy Prominent nasal bridge Attention deficit hyperactivity disorder Abnormal pyramidal sign Retinopathy Malar flattening Hepatitis Respiratory distress Abnormality of the musculature Short palm Recurrent fractures Thickened skin Chronic diarrhea Gingival overgrowth Lymphedema Hyperpigmentation of the skin Skin ulcer Polycystic ovaries Increased susceptibility to fractures Urticaria Abnormality of dental morphology Steatorrhea Telangiectasia of the skin Osteomalacia Camptodactyly of finger Hypocalcemia Short femur Short tibia Abnormality of immune system physiology Short humerus Hypoplasia of the radius Scrotal hypoplasia Abnormality of the genital system Abnormality of the gastrointestinal tract Severe global developmental delay Abnormality of the pinna Hypospadias Hydrocephalus Aplasia/Hypoplasia of the thymus Abnormality of the adrenal glands Malabsorption Externally rotated hips Generalized edema Hypoalbuminemia Hypercalcemia Mesomelia Spondyloepimetaphyseal dysplasia Metaphyseal chondrodysplasia Hypotrichosis Abnormality of the hair Short long bone Abnormality of pelvic girdle bone morphology Abnormality of the vertebral column Abnormality of the immune system Cone-shaped epiphyses of the phalanges of the hand Metaphyseal cupping of metacarpals Proteinuria Bronchiectasis Hypoplasia of the ulna Achalasia Cleft upper lip Bulbar signs Hypoplastic scapulae Mild global developmental delay Generalized dystonia Macroglossia Neurodegeneration Oral cleft Radial bowing Mental deterioration Cleft lip Dystonia Dysphagia Cleft palate Hypoproteinemia Prolonged partial thromboplastin time Butterfly vertebrae Anteverted nares Vitiligo Recurrent otitis media Purpura Encephalitis Systemic lupus erythematosus Nephritis Rheumatoid arthritis Spastic diplegia Restrictive ventilatory defect Hypermelanotic macule Scleroderma Basal ganglia calcification Autoimmune hemolytic anemia Recurrent sinusitis Autoimmune thrombocytopenia Narrow nose Spastic tetraplegia Progressive spastic quadriplegia Myopia Epicanthus Micrognathia Hypopigmented skin patches on arms Arthralgia/arthritis Metaphyseal sclerosis Madelung deformity Barrel-shaped chest Decrease in T cell count Tubulointerstitial fibrosis Cellular immunodeficiency Spondylometaphyseal dysplasia Immune dysregulation Juvenile rheumatoid arthritis Lumbar hyperlordosis Cerebral calcification Hyperreflexia Dislocated radial head Pectus excavatum Abnormality of the nervous system Muscular hypotonia of the trunk Craniosynostosis Anal atresia Single transverse palmar crease Full cheeks Prominent nose Generalized-onset seizure Eosinophilia Erythroderma Opisthotonus Neurodevelopmental delay Disproportionate short stature Severe combined immunodeficiency Tetraplegia Diarrhea Hemolytic anemia Lymphadenopathy Abnormality of the cerebral white matter Autoimmunity Arthralgia Pneumonia Low-set ears Hepatic cysts Spasticity Severe platyspondyly Cervical instability Narrow greater sacrosciatic notches Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Long neck



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