Immunodeficiency, and Short metacarpal

Diseases related with Immunodeficiency and Short metacarpal

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


Top matches:

Medium 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

Medium match COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES


Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

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

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Other less relevant matches:

Low match ROIFMAN SYNDROME


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

Low match MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY


Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5


IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

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 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

Low match X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Low match IMMUNODEFICIENCY 39; IMD39


Related symptoms:

  • Respiratory distress
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 39; IMD39

Top 5 symptoms//phenotypes associated to Immunodeficiency and Short metacarpal

Symptoms // Phenotype % cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Immunodeficiency and Short metacarpal. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly Muscular hypotonia Growth delay Recurrent respiratory infections Micromelia Severe short stature Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Macrocephaly Anteverted nares Generalized hypotonia Edema Osteoporosis Short nose Clinodactyly Postnatal growth retardation Underdeveloped nasal alae Short distal phalanx of finger Depressed nasal ridge Irregular vertebral endplates Subcutaneous nodule Feeding difficulties Recurrent bacterial infections Respiratory tract infection Lymphadenopathy Short stature Joint stiffness Eczema Pneumonia Genu varum Joint laxity Short metatarsal Global developmental delay Hypotrichosis Arthritis Recurrent fractures Thickened skin Everted upper lip vermilion Camptodactyly of finger Short palm Malabsorption Coarse facial features Failure to thrive Chronic diarrhea Hyperpigmentation of the skin Gingival overgrowth Lymphedema Decreased antibody level in blood Abnormal oral mucosa morphology Skin ulcer Polycystic ovaries Increased susceptibility to fractures Urticaria Abnormality of dental morphology Steatorrhea Telangiectasia of the skin Abnormality of the musculature Osteomalacia Periorbital wrinkles Irregular femoral epiphysis Periorbital hyperpigmentation Pleural effusion Cardiomegaly Recurrent otitis media Sinusitis Short toe Meningitis Recurrent pneumonia Finger clinodactyly Narrow palpebral fissure Tachypnea Eosinophilia Spondyloepiphyseal dysplasia Aplasia/Hypoplastia of the eccrine sweat glands Partial agenesis of the corpus callosum Long palpebral fissure Hip contracture Narrow nose Pulmonary edema Short digit Humoral immunodeficiency Prominent eyelashes Noncompaction cardiomyopathy Abnormality of the adrenal glands Biconvex vertebral bodies Abnormality of the gastrointestinal tract Agenesis of permanent teeth Aplasia/Hypoplasia of the thymus Type I diabetes mellitus Microdontia Anterior hypopituitarism Sparse scalp hair Thin skin Hypohidrosis Sparse and thin eyebrow Conical tooth Hoarse voice Heat intolerance Anodontia Taurodontia Soft skin Hypodontia Short chin Absent eyelashes Sparse eyelashes Dysphonia Prominent supraorbital ridges Rhinitis Brittle hair Hypoplastic nipples Sparse body hair Absent eyebrow Anhidrosis Ectodermal dysplasia Hypoplasia of the maxilla Diabetes mellitus Fever Aplasia/Hypoplasia of the eyebrow Sepsis Inflammatory abnormality of the skin Bronchiectasis Hypoalbuminemia Hypohidrotic ectodermal dysplasia Hypoplasia of the ulna IgG deficiency Radial bowing Hypoproteinemia Hypertension Anhidrotic ectodermal dysplasia Delayed eruption of teeth Frontal bossing Intellectual disability, severe Abnormality of the dentition Prominent forehead Absent nipple Concave nail Hyperhidrosis Sparse hair Dry skin Thick vermilion border Everted lower lip vermilion Proteinuria Downslanted palpebral fissures Premature birth Skeletal dysplasia Kyphosis Malar flattening Dilatation Midface retrusion Obesity Glaucoma Respiratory failure Narrow mouth Proptosis High forehead Kyphoscoliosis Pes planus Myopia Abnormality of the kidney Hyperlordosis Platyspondyly Narrow chest Smooth philtrum Flat face Renal cyst Abdominal distention Round face Waddling gait Nail dysplasia Wide intermamillary distance Talipes equinovarus Epicanthus Bowing of the long bones Wide nasal bridge Abnormality of the hair Short long bone Abnormality of pelvic girdle bone morphology Metaphyseal irregularity Metaphyseal dysplasia Abnormality of the vertebral column Abnormality of the immune system Cone-shaped epiphyses of the phalanges of the hand Metaphyseal cupping of metacarpals Seizures Hypertelorism Optic atrophy Motor delay Abnormality of the skeletal system Ventriculomegaly Umbilical hernia Generalized myoclonic seizures Cone-shaped epiphysis Ectopic kidney Combined immunodeficiency Underdeveloped supraorbital ridges Lacrimal duct stenosis Thin lower lip vermilion Scoliosis Micrognathia Osteoarthritis Broad thumb Single transverse palmar crease Fatigue 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 Medial deviation of the foot Splayed fingers Microcephaly Hepatomegaly Ventricular septal defect Bifid distal phalanx of the thumb Vomiting Intellectual disability, mild Splenomegaly Long philtrum Clinodactyly of the 5th finger Agenesis of corpus callosum Hypogonadism Hepatosplenomegaly Thin upper lip vermilion Tachycardia Downturned corners of mouth Retinal dystrophy Advanced tarsal ossification Large joint dislocations Rhizomelia Cystic hygroma Horseshoe kidney Coxa valga Joint dislocation Coxa vara Microretrognathia Sandal gap Disproportionate short-limb short stature Abnormality of the hand Metaphyseal widening Short femoral neck Thoracic hypoplasia Congenital glaucoma Protuberant abdomen Multiple joint dislocation Flat acetabular roof Generalized joint laxity Short 1st metacarpal Generalized osteoporosis Coronal cleft vertebrae Broad femoral neck Open angle glaucoma Flattened epiphysis Hypoplastic vertebral bodies Vertebral clefting Long upper lip Advanced ossification of carpal bones Hypoplastic-absent sebaceous glands



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