Autoimmunity, and Brachycephaly

Diseases related with Autoimmunity and Brachycephaly

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


Top matches:

Low match COMMON VARIABLE IMMUNODEFICIENCY


Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Low match BARDET-BIEDL SYNDROME 8; BBS8


BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Cognitive impairment
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 8; BBS8

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Other less relevant matches:

Low match CATARACT-GLAUCOMA SYNDROME


Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION


Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION Is also known as spg49|autosomal recessive spastic paraplegia type 49|hsan due to tecpr2 mutation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION

Low match LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME


Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.

Related symptoms:

  • Abnormality of the skeletal system
  • Brachycephaly
  • Craniosynostosis
  • Arachnodactyly
  • Encephalocele


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39

Low match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Low match ISOLATED BRACHYCEPHALY


Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.

ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Brachydactyly
  • Midface retrusion


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED BRACHYCEPHALY

Low match SRD5A3-CDG


SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Top 5 symptoms//phenotypes associated to Autoimmunity and Brachycephaly

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Proptosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Brachycephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Arthralgia Seizures Hearing impairment

Rare Symptoms - Less than 30% cases


Brachydactyly Frontal bossing Diabetes mellitus Hypothyroidism Arthritis Hypertrichosis Hepatomegaly Diarrhea Abnormal intestine morphology Feeding difficulties Respiratory failure Craniosynostosis Increased intracranial pressure Cerebellar atrophy Abnormal facial shape Low-set ears Asthma Obesity Elevated hepatic transaminase Recurrent respiratory infections Splenomegaly Pneumonia Spastic gait Gastroesophageal reflux Apnea Respiratory tract infection Spastic paraplegia Paraplegia Dysmetria Full cheeks Round face Dental crowding Mild short stature Aspiration Low anterior hairline Areflexia Broad neck Hypomimic face Central apnea Abnormality of the skeletal system Arachnodactyly Encephalocele Limited elbow extension Occipital encephalocele Gait ataxia Recurrent infections Cerebral atrophy Rickets Hypertension Fever Respiratory distress Vomiting Abnormality of the dentition Headache Constipation Waddling gait Bone pain Hypercalcemia Osteomalacia Calvarial skull defect Premature loss of teeth Papilledema Chondrocalcinosis Chronic pain Premature loss of primary teeth Pulmonary insufficiency Microcephaly Dysarthria Short neck Hypoplasia of the corpus callosum Oligodactyly Purpura Abnormality of the liver Polymicrogyria Nystagmus Anemia Motor delay Depressed nasal bridge Visual loss Abnormal heart morphology Hyperkeratosis Coloboma Ichthyosis Abnormality of skin pigmentation Palmoplantar keratoderma Underdeveloped supraorbital ridges Eczema Cerebellar vermis hypoplasia Inflammatory abnormality of the skin Cutis laxa Oligodontia Optic nerve hypoplasia Erythroderma Abnormality of coagulation Microcytic anemia Type I transferrin isoform profile Anterior pituitary hypoplasia Metacarpal synostosis Broad forehead Multiple skeletal anomalies Posteriorly rotated ears Delayed speech and language development Autism Neonatal hypotonia Aggressive behavior Autistic behavior Wide mouth Failure to thrive Immunodeficiency Macrocephaly Clinodactyly Camptodactyly Midface retrusion Dolichocephaly Malabsorption Hepatitis Abnormal lung morphology Chronic diarrhea Type I diabetes mellitus Short chin Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis Humeroradial synostosis Pain Failure to thrive in infancy Recurrent otitis media Kyphosis Pes cavus Osteoporosis Lymphopenia Sinusitis Bronchiectasis Kyphoscoliosis Osteopenia Coarse facial features Pes planus Corneal opacity Gait disturbance Bulbous nose Hirsutism Small hand Delayed eruption of teeth Hypoplasia of the maxilla Interphalangeal joint contracture of finger Otitis media Split hand Subcutaneous nodule Decreased body weight Thickened skin Vasculitis Recurrent pneumonia Knee flexion contracture IgM deficiency Chronic otitis media Emphysema Restrictive ventilatory defect Bronchitis Recurrent sinusitis IgA deficiency Autoimmune thrombocytopenia IgG deficiency Recurrent bronchitis Lymphoproliferative disorder B lymphocytopenia Flexion contracture Impaired T cell function Gastrointestinal stroma tumor Recurrent infection of the gastrointestinal tract Autoimmune neutropenia Humoral immunodeficiency Posterior pharyngeal cleft Conjunctivitis Scoliosis Recurrent bacterial infections Micrognathia Cataract Gingival overgrowth Osteolysis Anal atresia Cognitive impairment Interphalangeal joint erosions Widened metacarpal shaft Ankylosis of feet small joints Peripheral opacification of the cornea Thin metatarsal cortices Distal tapering of metatarsals Sclerotic cranial sutures Decreased antibody level in blood Lymphoma Neutropenia Hemolytic anemia Thin metacarpal cortices Hypospadias Rod-cone dystrophy Hypogonadism Polydactyly Micropenis Neurological speech impairment Postaxial polydactyly Lymphadenopathy Renal dysplasia Situs inversus totalis Hydrometrocolpos Osteolysis involving tarsal bones Carpal osteolysis Metaphyseal widening Vertebral compression fractures Abnormality of the thorax Hypermelanotic macule Abnormality of the ear Abnormality of the thyroid gland Narrow nasal bridge Arthropathy Hip contracture Ankle contracture Ankylosis Antinuclear antibody positivity Generalized osteoporosis Metatarsal osteolysis Delayed closure of the anterior fontanelle Wrist flexion contracture Generalized hypertrichosis Camptodactyly of toe Broad metatarsal Protrusio acetabuli Contractures of the large joints C1-C2 subluxation Finger swelling Severe generalized osteoporosis Metacarpal osteolysis Reduced antithrombin III activity



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