Autoimmunity, and High forehead

Diseases related with Autoimmunity and High forehead

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


Top matches:

Medium match FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME


Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.

FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME Is also known as fils syndrome

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Macrocephaly
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME

Medium match WOODHOUSE-SAKATI SYNDROME


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

Medium match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

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Other less relevant matches:

Low match MEDNIK SYNDROME


MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

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 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Low match STORMORKEN-SJAASTAD-LANGSLET SYNDROME


Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

STORMORKEN-SJAASTAD-LANGSLET SYNDROME Is also known as thrombocytopathy-asplenia-miosis syndrome|york platelet syndrome|thrombocytopathy, asplenia, and miosis|yps|stormorken syndrome

Related symptoms:

  • Short stature
  • Muscle weakness
  • Anemia
  • Fatigue
  • Myopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STORMORKEN-SJAASTAD-LANGSLET SYNDROME

Low match TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5

Low match LENNOX-GASTAUT SYNDROME


Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

Low match 15Q14 MICRODELETION SYNDROME


15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and High forehead

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Delayed speech and language development Anemia Growth delay Sensorineural hearing impairment Hypertelorism Scoliosis Intellectual disability, mild Seizures Mental deterioration Depressed nasal bridge Microcephaly Downslanted palpebral fissures Sparse hair Diarrhea Recurrent respiratory infections Abnormal facial shape

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Thrombocytopenia Hyperkeratosis Malar flattening Low-set ears Abnormality of the dentition Posteriorly rotated ears Purpura Tented upper lip vermilion Proptosis Deeply set eye Erythema Skin rash Convex nasal ridge Cutaneous photosensitivity Prominent nose Generalized hypotonia Cataract Ichthyosis Severe short stature Cleft palate Dysphagia Kyphosis Cleft lip Small for gestational age Dehydration Ptosis Oral cleft Frontal bossing Micropenis Peripheral neuropathy Prominent nasal bridge High palate Abnormality of metabolism/homeostasis Dystonia Relative macrocephaly Macrocephaly Asplenia Limb muscle weakness Elevated serum creatine phosphokinase Long face Proximal muscle weakness Myalgia Miosis Stroke Neurological speech impairment Abnormal thrombocyte morphology Smooth philtrum Bruising susceptibility Dyslexia Abnormal bleeding Migraine Hypotelorism Epistaxis Headache Hypocalcemia Abnormality of coagulation Abnormality of the musculature Stroke-like episode Subarachnoid hemorrhage Mitochondrial myopathy Dilatation Anisopoikilocytosis Myopathy Anteverted nares Generalized dystonia Acne Mild global developmental delay Laryngomalacia Hypoplastic scapulae Bulbar signs Pointed chin Narrow forehead Achalasia Externally rotated hips Highly arched eyebrow Brachydactyly Talipes equinovarus Osteopenia Fatigue Telecanthus Everted lower lip vermilion Talipes Biparietal narrowing Bulbous nose Short distal phalanx of finger Hypopigmentation of the skin Sparse and thin eyebrow Hypopigmented skin patches Profound global developmental delay Spotty hypopigmentation Increased muscle fatiguability Muscle weakness Short philtrum Frontotemporal cerebral atrophy Increased mean platelet volume Falls Atrial septal defect Behavioral abnormality Cerebral atrophy Encephalopathy Myoclonus Hyperactivity Gastroesophageal reflux EEG abnormality Aggressive behavior Ventricular septal defect Autistic behavior Generalized tonic-clonic seizures Generalized myoclonic seizures Long philtrum Focal-onset seizure Epileptic encephalopathy Gingival overgrowth Intellectual disability, progressive Motor delay Atonic seizures Abnormality of the periventricular white matter EEG with focal sharp slow waves Enlarged cisterna magna Generalized tonic seizures Abnormality of brainstem morphology CNS infection Personality disorder Hypoplasia of the corpus callosum Slow-growing scalp hair Abnormal platelet morphology Abnormality of the genital system Atypical absence seizures Congenital miosis Intrauterine growth retardation Cerebellar hypoplasia Mandibular prognathia Wide mouth Retinal dystrophy Decreased antibody level in blood Abnormal cardiac septum morphology Dandy-Walker malformation Intellectual disability, profound Low-set, posteriorly rotated ears Broad-based gait Chronic diarrhea Widely spaced primary teeth Intellectual disability, moderate Progressive microcephaly Autism Optic nerve hypoplasia Inguinal hernia Brittle hair Macroglossia Cutis marmorata Global brain atrophy Progeroid facial appearance Panhypopituitarism Slow-growing hair Microphallus Upgaze palsy Recurrent cystitis Neurodegeneration Insulin-resistant diabetes mellitus Primary amenorrhea Sparse scalp hair Choreoathetosis Hallucinations Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Hyperlipidemia Premature ovarian insufficiency Sparse eyebrow Flat occiput Aplasia/Hypoplasia of the eyebrow Hypoplasia of the uterus Autoimmune thrombocytopenia Heart block Fine hair Anodontia Decreased serum testosterone level Decreased serum estradiol Abnormal T-wave Abnormal spermatogenesis Increased thyroid-stimulating hormone level Streak ovary Decreased serum insulin-like growth factor 1 Progressive extrapyramidal movement disorder Hypoplasia of the fallopian tube Progressive alopecia Micrognathia Visual impairment Myocardial infarction Psychosis Vomiting Hypogonadism Pain Broad forehead Telangiectasia Bone pain Meningitis Telangiectases of the cheeks Cognitive impairment Hyperreflexia Dysarthria Gait disturbance Babinski sign Alopecia Diabetes mellitus Abnormality of extrapyramidal motor function Hypothyroidism Camptodactyly Protruding ear Arthrogryposis multiplex congenita Hypotrichosis Delayed puberty Abnormality of movement Sensory neuropathy Polyneuropathy Triangular face Dental malocclusion Decreased testicular size Amenorrhea Bilateral sensorineural hearing impairment Hepatomegaly Splenomegaly Cleft upper lip Diffuse telangiectasia Elevated erythrocyte sedimentation rate Abnormality of the hip bone Aplasia/Hypoplasia of the skin Abnormality of the immune system Prolonged neonatal jaundice Hypoplasia of the zygomatic bone Chronic lung disease Concave nasal ridge White forelock Abnormality of the middle ear Poliosis Facial hirsutism Crusting erythematous dermatitis Upslanted palpebral fissure Increased antibody level in blood Cirrhosis Cholestasis Hepatic fibrosis Abnormal intestine morphology Erythroderma Congenital sensorineural hearing impairment Intrahepatic cholestasis Hypocupremia Decreased serum ceruloplasmin Abnormality of the skeletal system Blindness Kyphoscoliosis Micromelia Petechiae Osteomyelitis Short nose Hepatitis Obesity Prominent forehead Hepatosplenomegaly Elevated hepatic transaminase Papule Pruritus Carious teeth Genu valgum Arachnodactyly Dry skin Hirsutism Palmoplantar keratoderma Asthma Low posterior hairline Psoriasiform dermatitis Depressed nasal ridge Inflammatory abnormality of the skin Thin skin Abnormal lung morphology Abnormality of retinal pigmentation Lymphedema Skin ulcer Low anterior hairline Bilateral single transverse palmar creases Recurrent pneumonia Generalized hirsutism Abnormality of the fingernails Reduced bone mineral density Systemic lupus erythematosus Everted upper lip vermilion



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