Intellectual disability, severe, and Abnormal blistering of the skin

Diseases related with Intellectual disability, severe and Abnormal blistering of the skin

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Abnormal blistering of the skin that can help you solving undiagnosed cases.

Top matches:

Medium match DARIER DISEASE

Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.

DARIER DISEASE Is also known as keratosis follicularis|darier-white disease|dd|darier disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pain
  • Intellectual disability, mild
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DARIER DISEASE

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

Medium match LIPOID PROTEINOSIS

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

Other less relevant matches:

Medium match PORPHYRIA VARIEGATA

Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

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 HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Is also known as hereditary sensory and autonomic neuropathy type i|hsan1|hsan ia|hsn ia|neuropathy, hereditary sensory, type ia|hsn1a|neuropathy, hereditary sensory radicular, autosomal dominant, type 1a

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

Medium match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Abnormal blistering of the skin

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hyperkeratosis Common - Between 50% and 80% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Abnormal blistering of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cataract Alopecia Skin rash Nystagmus Strabismus Pain Microcephaly Gait disturbance Erythema Visual impairment Cutaneous photosensitivity Abnormality of skin pigmentation Diarrhea Spasticity Hypertrichosis Hearing impairment Global developmental delay Hypopigmented skin patches Irregular hyperpigmentation Hypopigmentation of the skin Carcinoma Generalized hypotonia Cognitive impairment Hypermelanotic macule Papule Growth delay Hallucinations Psychosis Fever Abnormality of the hair Abnormality of the nail Thickened skin Muscular hypotonia Scarring Macule Neoplasm Gastroesophageal reflux Fragile skin Muscle weakness

Rare Symptoms - Less than 30% cases

Confusion Hypodontia Paralysis Abnormality of the kidney Vomiting Peripheral neuropathy Anxiety Abnormality of the skeletal system Verrucae Constipation Clinodactyly Depressivity Retinal detachment Hypogonadism Tetraplegia Hydrocephalus Sensorineural hearing impairment Encephalitis Abnormality of vision Recurrent infections Hepatic steatosis Pes cavus Malabsorption Abnormality of the eye EEG abnormality Abnormality of the skin Microphthalmia Telangiectasia Sparse hair Delusions Prominent forehead Abnormality of the dentition Frontal bossing Feeding difficulties Insomnia Failure to thrive Optic atrophy Eosinophilia Delayed eruption of teeth Pustule Generalized hirsutism Dysphagia High palate Supernumerary ribs Ridged nail Abnormality of the testis Retinal vascular proliferation Acrokeratosis Hemiplegia/hemiparesis Scoliosis Oral cleft Corneal opacity Cerebral cortical atrophy Brachydactyly Camptodactyly of finger Alopecia of scalp Absent speech Retinal hemorrhage Aggressive behavior Uveitis Keratitis Pruritus Palmoplantar keratoderma Telangiectasia of the skin Supernumerary nipple Nevus Abnormality of cardiovascular system morphology Asymmetric growth Interphalangeal joint contracture of finger Epileptic encephalopathy Abnormality of the ribs Cerebral ischemia Micrognathia Hypsarrhythmia Hypermetropia Hip dysplasia Hypertelorism Ventricular hypertrophy Abnormality of the cerebral white matter Dilated cardiomyopathy Small for gestational age Neurological speech impairment Microtia Abnormal cardiac septum morphology Synophrys Broad nail Absent hand Abnormal chorioretinal morphology Delayed myelination Hypoplasia of penis Brain atrophy Coloboma Tetralogy of Fallot Bifid uvula Renal cyst Ridged fingernail Intestinal malrotation Optic disc pallor Coarctation of aorta Short foot Deviation of finger Cleft upper lip Abnormal hand morphology Poor speech Polymicrogyria Hydronephrosis Blepharophimosis Depressed nasal ridge Wide nasal bridge Delayed skeletal maturation Myopia Downslanted palpebral fissures Ventricular septal defect Ventriculomegaly Anteverted nares Hypoplasia of the corpus callosum Cardiomyopathy Atrial septal defect Clinodactyly of the 5th finger Myopathy Behavioral abnormality Patent ductus arteriosus Hypospadias Obesity Midface retrusion Cerebral atrophy Malar flattening Long philtrum Kyphosis Epicanthus Agenesis of corpus callosum Abnormality of the liver Cryptorchidism Joint stiffness Abnormality of the pinna Feeding difficulties in infancy Camptodactyly Abnormal facial shape Low-set, posteriorly rotated ears Neonatal hypotonia Cleft palate Conductive hearing impairment Deeply set eye Depressed nasal bridge Mandibular prognathia Hypothyroidism Autism Narrow mouth Micropenis Brachycephaly Low-set ears Upslanted palpebral fissure Posteriorly rotated ears Delayed speech and language development Tetraparesis Delayed cranial suture closure Mitral regurgitation Abnormal left ventricle morphology Abnormality of the anus Gastric ulcer Abnormality of the mandible Abnormality of female external genitalia Lambdoidal craniosynostosis Impaired social interactions Abnormal corpus callosum morphology Periventricular leukomalacia Cavum septum pellucidum Abnormality of chromosome stability Biliary tract abnormality Abnormal renal physiology Expressive language delay Colpocephaly Thickened helices Rib fusion Delayed closure of the anterior fontanelle Abnormality of the spleen Left ventricular noncompaction Redundant neck skin Volvulus Delayed CNS myelination Dilation of lateral ventricles 11 pairs of ribs Abnormality of the optic disc Abnormality of brain morphology Lower limb asymmetry Bifid ribs Solitary renal cyst Abnormality of the renal pelvis Abnormality of the cerebral ventricles Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Hypoplastic female external genitalia Aortic arch aneurysm Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Noncompaction cardiomyopathy Cranial nerve VI palsy Abnormal social behavior Talipes valgus Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Annular pancreas Abnormality of the neck Optic nerve coloboma Pachygyria Bicuspid aortic valve Clitoral hypertrophy Self-injurious behavior Hand polydactyly Failure to thrive in infancy Patent foramen ovale Pyloric stenosis Delayed gross motor development Infantile muscular hypotonia Scrotal hypoplasia Sacral dimple Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Metatarsus adductus Hypercholesterolemia Cranial nerve paralysis Abnormal intestine morphology Spastic tetraparesis Narrow palpebral fissure Pointed chin Wide anterior fontanel Short phalanx of finger Stereotypy Large fontanelles Decreased body weight Heterotopia Congenital sensorineural hearing impairment Dystrophic toenail Abnormality of the gastrointestinal tract Foot polydactyly Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Self-mutilation Arnold-Chiari type I malformation Overweight Epileptic spasms Abnormal lung lobation Spinal canal stenosis Dysphasia Aortic root aneurysm Submucous cleft hard palate Congenital hypothyroidism Anteriorly placed anus Neuroblastoma Slender long bone Absent septum pellucidum Abnormality of the immune system Abnormal heart valve morphology Infantile spasms High hypermetropia Polyphagia Hypoplastic fingernail Pallor Abnormal toenail morphology Visual hallucinations Postnatal growth retardation Osteopenia Osteoporosis Edema Porphyrinuria Premature adrenarche Dark urine Motor polyneuropathy Neoplasm of the liver Hepatocellular carcinoma Overgrowth Restlessness Milia Agitation Chronic kidney disease Aspiration Thin skin Tachycardia Nausea Nausea and vomiting Abdominal pain Leukemia Eczema Bilateral intracranial calcifications Ataxia Vertigo Unsteady gait Photophobia Gait ataxia Headache Hypertonia Tremor Dysarthria Hyperreflexia Ptosis Lamellar cataract Sparse scalp hair Acantholysis Concave nasal ridge Poikiloderma Osteosarcoma Severe vision loss Striae distensae Basal cell carcinoma Squamous cell carcinoma Erythroderma Melanoma Hypertension Tongue nodules Migraine Anal mucosal leukoplakia Neoplasm of the skin Epidermal acanthosis Tapered finger Dry skin Protruding ear Weight loss Glaucoma Diabetes mellitus Subungual hyperkeratotic fragments Enlargement of parotid gland Scaling skin Plantar pits Palmar pits Fractures of the long bones Bone cyst Fragile nails Bipolar affective disorder Aniridia Skin vesicle Schizophrenia Intellectual disability, mild Palmoplantar hyperkeratosis Hypergranulosis Hoarse cry Subcutaneous nodule Abnormality of the gingiva Patchy alopecia Paranoia Abnormal oral mucosa morphology Nasal polyposis Microglossia Acne Oral-pharyngeal dysphagia Oligodontia Hoarse voice Thick lower lip vermilion Generalized hyperkeratosis Cerebral calcification Memory impairment Respiratory tract infection Abnormality of the nervous system Recurrent respiratory infections Dystonia Respiratory distress Patchy palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Diffuse palmoplantar keratoderma Cirrhosis Aciduria Hearing abnormality Ectodermal dysplasia Hypoplastic nipples Hyperostosis Coarse hair Hemivertebrae Increased bone mineral density Hyperpigmentation of the skin Lymphedema Fine hair Nail dysplasia Nail dystrophy Hypoplasia of the fovea Kyphoscoliosis Visual loss Immunodeficiency Autoamputation of foot Foot osteomyelitis Neuropathic arthropathy Civatte bodies Distal sensory loss of all modalities Paronychia Morphological abnormality of the central nervous system Abnormality of the vasculature Anodontia Decreased sensory nerve conduction velocity Attention deficit hyperactivity disorder Abnormality of immune system physiology Abnormality of dental morphology Spina bifida occulta Osteolysis Abnormality of the fingernails Abnormality of dental enamel Skin ulcer Blue sclerae Pulmonary arterial hypertension Finger syndactyly Umbilical hernia Conical tooth Congestive heart failure Atrophic, patchy alopecia Hyperpigmented streaks Nail pits Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Breast aplasia Breast hypoplasia Generalized osteosclerosis Thick nail Chronic axonal neuropathy Restless legs Inflammatory abnormality of the skin Neural tube defect Babinski sign Hyporeflexia Areflexia Respiratory insufficiency Talipes equinovarus Skeletal muscle atrophy Neutral hyperaminoaciduria Grasp reflex Glabellar reflex Hyperphenylalaninemia Glossitis Pes planus Mood changes Abnormal urinary color Methylmalonic aciduria Episodic ataxia Bruxism Gingivitis Emotional lability Aminoaciduria Diplopia Chronic diarrhea Dementia Difficulty walking Decreased number of large peripheral myelinated nerve fibers Paraparesis Vocal cord paralysis Aseptic necrosis Arthropathy Pathologic fracture Osteomyelitis Brisk reflexes Anhidrosis Hammertoe Anosmia Spastic paraparesis Abnormal autonomic nervous system physiology Mental deterioration Hypohidrosis Hypotension Polyneuropathy Sensory neuropathy Distal sensory impairment Distal amyotrophy Peripheral axonal neuropathy Paresthesia Cough Distal muscle weakness Agenesis of the anterior commissure


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