Intellectual disability, and Skin rash

Diseases related with Intellectual disability and Skin rash

In the following list you will find some of the most common rare diseases related to Intellectual disability and Skin rash that can help you solving undiagnosed cases.

Top matches:

NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.

NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME Is also known as familial cold autoinflammatory syndrome type 2|naps12|fcas2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME

Medium match HYPERTRYPTOPHANEMIA

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Other less relevant matches:

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Medium match NETHERTON SYNDROME

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

NETHERTON SYNDROME Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige|comÈl-netherton syndrome|bamboo hair syndrome|comel-netherton syndrome|ns|netherton disease

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NETHERTON SYNDROME

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability and Skin rash

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Skin rash. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Urticaria Feeding difficulties Generalized hypotonia Cutaneous photosensitivity Dry skin Hyperhidrosis Hearing impairment Microcephaly Arthralgia Lymphadenopathy Splenomegaly Erythema

Rare Symptoms - Less than 30% cases

Scaling skin Cataract Basal cell carcinoma Melanoma Weight loss Pruritus Abnormal blistering of the skin Vomiting Spasticity Abnormality of the hair Increased antibody level in blood Irregular hyperpigmentation Poikiloderma Pain Ataxia Failure to thrive Low-set ears High palate Sensorineural hearing impairment Epicanthus Thrombocytopenia Thin upper lip vermilion Developmental regression Atopic dermatitis Hyperkeratosis Hepatomegaly Malar rash Erythroderma Pes planus Postnatal growth retardation Sparse scalp hair Arthritis Intrauterine growth retardation Episodic fever Eczema Visual impairment Hypertelorism Recurrent skin infections Brittle hair Intracranial hemorrhage Psoriasiform dermatitis Emphysema Abnormal intestine morphology Hypopigmentation of the skin Malnutrition Abnormality of skin pigmentation Leukemia Sparse eyelashes Sparse hair Ectopic kidney Carcinoma Osteopenia Hypogonadism Abnormality of the musculature Congenital ichthyosiform erythroderma Severe postnatal growth retardation Osteoporosis Hypothermia Villous atrophy Acanthosis nigricans Fine hair Overgrowth Hydronephrosis Osteosarcoma Concave nasal ridge Acantholysis Lamellar cataract Acrokeratosis Recurrent infections Allergy Alopecia of scalp Severe vision loss Recurrent respiratory infections Diarrhea Edema Striae distensae Aminoaciduria Prominent forehead Squamous cell carcinoma Malabsorption Ichthyosis Sepsis Asthma Telangiectasia Decreased antibody level in blood Dehydration Abnormality of the dentition Inflammatory abnormality of the skin Sparse and thin eyebrow Verrucae Abnormal facial shape Congenital nonbullous ichthyosiform erythroderma Arthrogryposis multiplex congenita Severe intrauterine growth retardation Deep palmar crease Macrodontia Nevus flammeus of the forehead Decreased head circumference Muscle weakness Skeletal muscle atrophy Respiratory insufficiency Congestive heart failure Intellectual disability, mild Arrhythmia Macrotia Joint stiffness Abnormal pyramidal sign Arachnodactyly Short chin Right bundle branch block Clubbing of toes Erythema nodosum Clubbing of fingers Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Hyperostosis Macroglossia Lipodystrophy Subcutaneous nodule Abnormality of the face Thick lower lip vermilion Cardiomegaly Prominent nose Sacral dimple Hemivertebrae Trichorrhexis nodosa Hypoplasia of the corpus callosum Allergic rhinitis Increased IgE level Angioedema Immunologic hypersensitivity Hypernatremia Hypernatremic dehydration Brittle scalp hair IgE-mediated food allergy Neoplasm Ptosis Delayed speech and language development Depressed nasal bridge Wide nasal bridge Downslanted palpebral fissures Long philtrum Pointed chin High, narrow palate Decreased body weight Broad-based gait Narrow forehead Broad nasal tip Triangular face Small hand Smooth philtrum Clinodactyly Synophrys Abnormal cardiac septum morphology Abnormality of the pinna Telecanthus Brachycephaly Posteriorly rotated ears Frontal bossing Dystonia Chilblains Thickened skin Hypersexuality Tryptophanuria Head-banging Brachydactyly Abnormality of cardiovascular system morphology Diabetes mellitus Glaucoma Protruding ear Corneal opacity Tapered finger Palmoplantar keratoderma Epidermal acanthosis Hypertrichosis Abnormality of the nail Mood swings Generalized hirsutism Neoplasm of the skin Palmoplantar hyperkeratosis Hypermelanotic macule Macule Abnormality of the testis Hypergranulosis Generalized hyperkeratosis Diffuse palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Patchy palmoplantar keratoderma Muscular hypotonia Anemia Stuttering Generalized joint laxity Acidosis Optic neuritis Fatigue Headache Abdominal pain Myalgia Chest pain Bilateral sensorineural hearing impairment Leukocytosis Recurrent aphthous stomatitis Elevated C-reactive protein level Lymphocytosis Lower limb pain Neuritis Limb pain Strabismus Overweight Flexion contracture Myopia Behavioral abnormality Depressivity Aggressive behavior Joint laxity Intellectual disability, moderate Camptodactyly of finger High myopia Interphalangeal joint contracture of finger Adducted thumb Emotional lability Limited elbow extension Abnormal heart morphology Feeding difficulties in infancy Serositis Paraplegia Prematurely aged appearance Demyelinating peripheral neuropathy Arteriosclerosis Squamous cell carcinoma of the skin Abnormality of amino acid metabolism Numerous pigmented freckles Cerebral atrophy Absent speech Muscular hypotonia of the trunk Irritability Spastic paraplegia Abnormality of the cerebral white matter Abnormality of eye movement Tetraplegia Cachexia Brain atrophy Nephrotic syndrome Spastic tetraplegia Tetraparesis Progressive neurologic deterioration Lower limb spasticity Progressive microcephaly Vasculitis Spastic tetraparesis Toe walking Pericardial effusion Progressive spastic paraplegia Basal ganglia calcification Dermal atrophy Diplopia Microtia Methylmalonic aciduria Small for gestational age Lethargy Neutropenia Aciduria Abnormality of the skin Pancytopenia Psychosis Incoordination Rheumatoid arthritis Macrocytic anemia Megaloblastic anemia Juvenile rheumatoid arthritis Stomatitis Homocystinuria Confusion Methylmalonic acidemia Glossitis Hyperhomocystinemia Decreased methylcobalamin Megaloblastic bone marrow Decreased adenosylcobalamin Decreased methionine synthase activity Cystathioninuria Cystathioninemia Nystagmus Dysarthria Optic atrophy Hydrocephalus Retinopathy Abnormality of the Leydig cells


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