Brachydactyly, and Systemic lupus erythematosus

Diseases related with Brachydactyly and Systemic lupus erythematosus

In the following list you will find some of the most common rare diseases related to Brachydactyly and Systemic lupus erythematosus that can help you solving undiagnosed cases.


Top matches:

Medium match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Medium match CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1


CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Low match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

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Other less relevant matches:

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Low match COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1


Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (OMIM ), in which only C8 beta (C8B ) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1 Is also known as c8ag deficiency|c8 deficiency, type i|c8 alpha-gamma deficiency

Related symptoms:

  • Meningitis
  • Systemic lupus erythematosus
  • C8 deficiency
  • Recurrent Neisserial infections


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1

Low match MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY


Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) 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 IL12RB1 DEFICIENCY Is also known as mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|il12rb1 deficiency|msmd due to complete il12rb1 deficiency|msmd due to complete interleukin 12 receptor beta 1 deficiency

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Systemic lupus erythematosus
  • Recurrent mycobacterial infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY

Low match C1 INHIBITOR DEFICIENCY


Related symptoms:

  • Systemic lupus erythematosus
  • Angioedema


SOURCES: ORPHANET OMIM MENDELIAN

More info about C1 INHIBITOR DEFICIENCY

Low match ACETYLATION, SLOW


ACETYLATION, SLOW Is also known as inh inactivation, slow|isoniazid inactivation, slow|slow acetylator phenotype

Related symptoms:

  • Neoplasm
  • Peripheral neuropathy
  • Abnormality of metabolism/homeostasis
  • Systemic lupus erythematosus
  • Bladder neoplasm


SOURCES: OMIM MENDELIAN

More info about ACETYLATION, SLOW

Low match AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS


Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.

AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as autosomal sle|familial systemic lupus erythematosus|familial sle

Related symptoms:

  • Systemic lupus erythematosus
  • Nephritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS

Low match OKT4 EPITOPE DEFICIENCY


OKT4 EPITOPE DEFICIENCY Is also known as t4 epitope deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy
  • Systemic lupus erythematosus
  • Abnormality of the thyroid gland
  • Graves disease


SOURCES: OMIM MENDELIAN

More info about OKT4 EPITOPE DEFICIENCY

Top 5 symptoms//phenotypes associated to Brachydactyly and Systemic lupus erythematosus

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Autoimmunity Rare - less than 30% cases
Global developmental delay Rare - less than 30% cases
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Other less frequent symptoms

Patients with Brachydactyly and Systemic lupus erythematosus. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Hearing impairment Short phalanx of finger Abnormality of the ribs Abnormal facial shape Cataract Short nose Short stature Protruding ear Renal hypoplasia Downslanted palpebral fissures Abnormal form of the vertebral bodies Abnormality of the genital system Short thumb Congenital hip dislocation Hemivertebrae Narrow palate Abnormality of dental enamel Abnormal dermatoglyphics Renal hypoplasia/aplasia Abnormality of the metacarpal bones Laryngomalacia Hypoplasia of the radius Deep philtrum Convex nasal ridge Renal agenesis Short philtrum Hip dislocation Deeply set eye Prominent nasal bridge Retrognathia Hypothyroidism Proptosis Finger syndactyly Prominent forehead Syndactyly Hypodontia Malar flattening Elbow dislocation Frontal bossing Congenital cataract Toe syndactyly Micromelia High, narrow palate Radioulnar synostosis Absent thumb Ectropion Recurrent infections Episodic fever Recurrent viral infections Periorbital edema Lymphadenitis Meningitis C8 deficiency Recurrent Neisserial infections Diarrhea Recurrent mycobacterial infections Vasculitis Angioedema Neoplasm Peripheral neuropathy Abnormality of metabolism/homeostasis Bladder neoplasm Nephritis Lymphadenopathy Abnormality of the thyroid gland Graves disease Combined immunodeficiency Subcutaneous nodule Hypoplasia of the ulna Bilateral renal hypoplasia Mixed hearing impairment Ptosis Abnormality of digit Congenital hypothyroidism Oligodactyly Synostosis of carpal bones Absent toenail Absent fingernail Foot oligodactyly Crossed fused renal ectopia Inflammatory abnormality of the skin Synostosis of joints Fever Edema Thrombocytopenia Clinodactyly Pes planus Scarring Everted lower lip vermilion Bifid uvula Low-set ears Short nasal septum Cleft palate Metaphyseal irregularity Accelerated skeletal maturation Lissencephaly Short long bone Atrioventricular block Poor suck Redundant skin Cone-shaped epiphysis Abnormality of neuronal migration Short ribs Thoracic hypoplasia Cortical gyral simplification Short finger Disproportionate short stature Metaphyseal dysplasia Turricephaly Heart block Cardiorespiratory arrest Hypocalcemia Short toe Delayed epiphyseal ossification Agenesis of corpus callosum Muscular hypotonia Talipes equinovarus Short neck Respiratory insufficiency Atrial septal defect Arrhythmia Delayed skeletal maturation Cerebellar hypoplasia Posteriorly rotated ears Rhizomelia Respiratory failure Apnea Platyspondyly Narrow chest Short palm Short metacarpal Limb undergrowth Pachygyria Cone-shaped epiphyses of the phalanges of the hand Hyperphosphatemia Micrognathia Short distal phalanx of finger Irregular tarsal bones Horizontal inferior border of scapula 11 thoracic vertebrae Intellectual disability Microcephaly Failure to thrive Hypogonadism Ichthyosis Anosmia Focal lissencephaly Abnormality of the vertebral column Epiphyseal stippling Vitamin K deficiency Generalized hypotonia Maternal autoimmune disease Scoliosis Hypertelorism Nystagmus Widened sacrosciatic notch Iliac crest serration Flat acetabular roof Coronal cleft vertebrae Hypoplastic iliac wing Myocarditis 11 pairs of ribs Flared iliac wings Spondylometaphyseal dysplasia Metaphyseal chondrodysplasia Metaphyseal cupping Porencephalic cyst Narrow greater sacrosciatic notches Cone-shaped metacarpal epiphyses Third degree atrioventricular block Cupped ribs Pulmonary hemorrhage Long fibula Myocardial necrosis Large posterior fontanelle Abnormality of the scapula Rhizomelic arm shortening Abnormal T cell morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Postaxial hand polydactyly, related diseases and genetic alterations Hepatomegaly and Dilated cardiomyopathy, related diseases and genetic alterations Delayed speech and language development and Retrognathia, related diseases and genetic alterations Skeletal muscle atrophy and Ascites, related diseases and genetic alterations Low-set ears and Congenital diaphragmatic hernia, related diseases and genetic alterations Peripheral neuropathy and Delayed speech and language development, related diseases and genetic alterations

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