Autoimmunity, and Frontal bossing

Diseases related with Autoimmunity and Frontal bossing

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

Top matches:

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

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

Medium 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

Other less relevant matches:

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM ), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018).For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2

Top 5 symptoms//phenotypes associated to Autoimmunity and Frontal bossing

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypothyroidism Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Generalized hypotonia Short stature Micrognathia Cataract Seizures Hearing impairment Downslanted palpebral fissures Gait disturbance Kyphosis Subcutaneous nodule Arthritis Muscle weakness Delayed speech and language development Skeletal muscle atrophy Intellectual disability, mild Cognitive impairment Growth delay Recurrent infections Abnormal facial shape Low-set ears Diarrhea Diabetes mellitus Proptosis Myopathy Narrow palate Immunodeficiency

Rare Symptoms - Less than 30% cases

Hyperreflexia Dental malocclusion Muscular hypotonia Depressed nasal bridge Neoplasm Sensorineural hearing impairment Flat occiput Hallucinations Psychosis High palate Prominent nasal bridge Mental deterioration Babinski sign Short nose Synostosis of joints Prominent forehead Dysarthria Hypodontia Protruding ear Malar flattening Intracranial hemorrhage Pectus excavatum Hamartomatous polyposis Cellulitis Cafe-au-lait spot Autism Hydrocele testis Increased intracranial pressure Decreased antibody level in blood Macroglossia Hydrocephalus Myopia Motor delay Pain Ataxia Intestinal polyposis Delayed skeletal maturation Arteriovenous malformation Meningioma Hashimoto thyroiditis Hamartoma Multiple cafe-au-lait spots Multiple lipomas Cutis marmorata Telangiectasia Tall stature Broad thumb Lymphoma Neurological speech impairment Macrotia Nystagmus Lipoma Hypertrichosis Coarse facial features Abnormality of the thyroid gland Chronic diarrhea Dolichocephaly Camptodactyly Hypoplasia of the maxilla Gingival overgrowth Hepatomegaly Splenomegaly Osteopenia Kyphoscoliosis Brachydactyly Failure to thrive Corneal opacity Long ear Oligosacchariduria Spondylolysis Cerebral dysmyelination Retinal thinning Finger swelling Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Synovitis Increased hepatic glycogen content Increased vertebral height Spinocerebellar tract disease in lower limbs Abnormality of the kidney Intellectual disability, moderate Carcinoma Proximal muscle weakness Narrow mouth Dilatation Headache Atrial septal defect Tremor Flattened moderately deformed vertebrae Reduced ejection fraction Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Abnormality of the helix Impaired smooth pursuit Clinodactyly Progressive cerebellar ataxia Depressed nasal ridge Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Hip dysplasia Otitis media Respiratory failure Delayed myelination Gliosis Neurodegeneration Bowing of the long bones Highly arched eyebrow Thick eyebrow Retinal degeneration Confusion Dysmetria Genu valgum Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Broad forehead Progressive neurologic deterioration Amblyopia Dysostosis multiplex Neurodevelopmental delay Papule Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Bowel incontinence Limb ataxia Open bite Bowing of the legs Heart murmur Chronic otitis media Prominent supraorbital ridges Posteriorly rotated ears Widely spaced teeth Recurrent bacterial infections Low anterior hairline Spastic gait Leukemia Polymicrogyria Nausea and vomiting Mucosal telangiectasiae Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Pseudopapilledema Multiple trichilemmomata Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Merkel cell skin cancer Lobular carcinoma in situ Colonic diverticula Osteomyelitis Reduced subcutaneous adipose tissue Dilated cardiomyopathy Skin rash Gastroesophageal reflux Cardiomyopathy Intrauterine growth retardation Microcephaly Recurrent streptococcus pneumoniae infections Conical incisor Periorbital edema Ectodermal dysplasia Developmental regression Dry skin Hyperhidrosis Fever Broad eyebrow Dermal translucency Periorbital fullness Speech apraxia Pointed chin Apraxia Postnatal growth retardation Subcutaneous lipoma Adenoma sebaceum Joint hypermobility Hemangioma Macule Melanocytic nevus Hand polydactyly Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Hypopigmented skin patches Drooling Acute myeloid leukemia Cranial nerve paralysis Neoplasm of the skin Lymphopenia Gynecomastia Exotropia Intention tremor Overgrowth Abnormal cerebellum morphology Palmoplantar keratoderma Respiratory tract infection Cystic hygroma Hyperthyroidism Decreased proportion of CD4-positive T cells Astrocytoma Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Ovarian cyst Abnormality of the uterus Ovarian neoplasm Furrowed tongue Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Scaphocephaly Renal cell carcinoma Hodgkin lymphoma Thyroiditis Pectus carinatum Gait ataxia Anxiety Synostosis of carpal bones Arthropathy Hip contracture Ankle contracture Ankylosis Crossed fused renal ectopia Bilateral renal hypoplasia Foot oligodactyly Absent fingernail Absent toenail Oligodactyly Abnormality of the ear Congenital hypothyroidism Abnormality of digit Absent thumb Mixed hearing impairment Hypoplasia of the ulna Ectropion Elbow dislocation Radioulnar synostosis Systemic lupus erythematosus Deep philtrum Narrow nasal bridge Peripheral neuropathy Laryngomalacia Arthrogryposis multiplex congenita Amenorrhea Decreased testicular size Prominent nose Triangular face Polyneuropathy Sensory neuropathy Abnormality of movement Delayed puberty Hypotrichosis Sparse hair Hypermelanotic macule Knee flexion contracture High forehead Micropenis Hypogonadism Alopecia Osteolysis Abnormality of metabolism/homeostasis Metaphyseal widening Dystonia Abnormality of the thorax Hypoplasia of the radius Abnormality of the metacarpal bones Bilateral sensorineural hearing impairment Sclerotic cranial sutures Syndactyly Generalized hypertrichosis Camptodactyly of toe Broad metatarsal Protrusio acetabuli Ptosis Cleft palate Contractures of the large joints C1-C2 subluxation Distal tapering of metatarsals Retrognathia Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Wrist flexion contracture Deeply set eye Renal hypoplasia/aplasia Abnormality of the ribs Abnormal dermatoglyphics Abnormality of dental enamel Antinuclear antibody positivity Hemivertebrae Congenital hip dislocation Short thumb Abnormality of the genital system Abnormal form of the vertebral bodies Renal hypoplasia Convex nasal ridge Delayed closure of the anterior fontanelle Renal agenesis Vertebral compression fractures High, narrow palate Micromelia Toe syndactyly Congenital cataract Hip dislocation Finger syndactyly Generalized osteoporosis Short philtrum Dehydration Abnormality of extrapyramidal motor function Hepatosplenomegaly Short chin Spasticity Abnormal lung morphology Strabismus Type I diabetes mellitus Neoplasm of the adrenal cortex Abnormal large intestine morphology Uterine neoplasm Abdominal wall muscle weakness Subcutaneous hemorrhage Neoplasm of the breast Epicanthus Visceral angiomatosis Abnormal intestine morphology Thyroid carcinoma Angina pectoris Abnormality of the optic nerve Relative macrocephaly Prominent occiput Capillary hemangioma Chronic lung disease Interstitial pneumonitis Hepatitis Asthma Flexion contracture Midface retrusion Umbilical hernia Skeletal dysplasia Mandibular prognathia Severe generalized osteoporosis Recurrent respiratory infections Inguinal hernia Areflexia Depressivity Hernia Optic atrophy Cerebral atrophy Behavioral abnormality Abnormality of the dentition Cerebellar atrophy Intellectual disability, severe Malabsorption Short neck Ventriculomegaly Talipes equinovarus Abnormality of the skeletal system Irregular hyperpigmentation Pes cavus Thickened skin Sparse eyebrow Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Split hand Premature ovarian insufficiency Abnormal spermatogenesis Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Decreased body weight Choreoathetosis Sparse scalp hair Primary amenorrhea Myocardial infarction Fine hair Abnormal T-wave Increased thyroid-stimulating hormone level Osteoporosis Hypoglycemia Aortic aneurysm Brachycephaly Cachexia Delayed gross motor development Lymphedema Arthralgia Nevus Wide nose Joint hyperflexibility Pes planus Bulbous nose Streak ovary Hirsutism Long philtrum Small hand Anteverted nares Delayed eruption of teeth Interphalangeal joint contracture of finger Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Malar rash


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