Intellectual disability, severe, and Palmoplantar keratoderma

Diseases related with Intellectual disability, severe and Palmoplantar keratoderma

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


Top matches:

High match CEDNIK SYNDROME


CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

High 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

High match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME


Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

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Other less relevant matches:

High match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match HEREDITARY PALMOPLANTAR KERATODERMA, GAMBORG-NIELSEN TYPE


Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive.

HEREDITARY PALMOPLANTAR KERATODERMA, GAMBORG-NIELSEN TYPE Is also known as ppk, gamborg-nielsen type|hereditary palmoplantar hyperkeratosis, gamborg-nielsen type

Related symptoms:

  • Intellectual disability
  • Hyperkeratosis
  • Papule
  • Palmoplantar keratoderma
  • Epidermal acanthosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HEREDITARY PALMOPLANTAR KERATODERMA, GAMBORG-NIELSEN TYPE

Medium match WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3


WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3 Is also known as woolly hair, autosomal recessive 3, with hypotrichosis

Related symptoms:

  • Intellectual disability
  • Diarrhea
  • Immunodeficiency
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3

Medium match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

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

Medium match ERYTHROKERATODERMIA VARIABILIS


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 CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA


Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as ichthyosiform erythroderma, nonbullous congenital, 1, formerly|erythrodermic ichthyosis|non-bullous congenital ichthyosiform erythroderma|ncie1, formerly|cie|collodion baby, self-healing|ichthyosiform erythroderma, brocq congenital, nonbullous form, forme

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Palmoplantar keratoderma

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hyperkeratosis Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Pruritus Uncommon - Between 30% and 50% cases
Abnormality of the nail Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Intellectual disability, severe and Palmoplantar keratoderma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Erythema Hyperhidrosis Seizures Global developmental delay Short stature Papule Scaling skin Abnormality of the hair Epidermal acanthosis Failure to thrive Ichthyosis Alopecia Dry skin Muscular hypotonia Hepatomegaly Growth delay Scarring Hypotrichosis Diffuse palmoplantar keratoderma Nystagmus Lymphedema Absent eyebrow Nail dystrophy Palmoplantar hyperkeratosis Depressed nasal bridge Downslanted palpebral fissures Microcephaly Optic atrophy Hypertelorism Thickened skin Macrotia

Rare Symptoms - Less than 30% cases


Kyphosis Umbilical hernia Cerebral cortical atrophy Abnormality of the testis Delayed skeletal maturation Inguinal hernia Abnormal blistering of the skin Hernia Immunodeficiency Autism Ventriculomegaly Abnormality of the kidney Frontal bossing Hypermelanotic macule Macule Myopia Feeding difficulties Flexion contracture Cryptorchidism Hypergranulosis Scoliosis Hypoplasia of the zygomatic bone Psoriasiform dermatitis Hydronephrosis Respiratory tract infection Developmental regression Nevus Abnormality of cardiovascular system morphology Sparse hair Strabismus Abnormality of skin pigmentation Corneal erosion Absent eyelashes Abnormal eyelash morphology Alopecia of scalp Submucous cleft hard palate Congenital ichthyosiform erythroderma Hydroureter Fine hair Hypertrophic cardiomyopathy Keratitis Erythroderma Open mouth Cerebral visual impairment Hypohidrosis Sparse eyelashes Eczema Astigmatism Ectropion Curly hair Woolly hair Corneal opacity Generalized hirsutism Cataract Malar flattening Long face Delayed speech and language development Genu valgum Congestive heart failure Skin rash Ptosis High forehead Proptosis Prominent forehead Recurrent respiratory infections Abnormal facial shape Agenesis of corpus callosum Thrombocytopenia Peripheral neuropathy Recurrent infections Short nose Abnormality of the dentition Splenomegaly Intellectual disability, mild Diarrhea Vomiting High palate Dolichocephaly Micrognathia Low posterior hairline Ataxia Abnormality of the eye Hypoplasia of the corpus callosum Inflammatory abnormality of the skin Abnormality of vision Depressed nasal ridge Cutaneous photosensitivity Abnormality of the sternum Infantile spasms Deep palmar crease Neurofibromas Gastrointestinal dysmotility Neurodevelopmental delay Short attention span Aplasia/Hypoplasia of the eyebrow Abnormality of refraction Abnormal mitral valve morphology Slow-growing hair Thickened helices Open bite Large for gestational age Subvalvular aortic stenosis Malnutrition Delayed CNS myelination Abnormal myocardium morphology Anal stenosis Abnormality of the ulna Premature skin wrinkling Enlarged kidney Arnold-Chiari type I malformation Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Thick upper lip vermilion Abnormal hair pattern Abnormality of the gastrointestinal tract Generalized hyperpigmentation Dystrophic fingernails Biparietal narrowing Multiple cafe-au-lait spots Abnormality of the optic nerve Wide nasal bridge Abnormal heart valve morphology Long palpebral fissure Obsessive-compulsive behavior Thin skin Heart murmur Coarctation of aorta Aspiration Hyperpigmentation of the skin Cafe-au-lait spot Hypogonadism Decreased body weight Proteinuria Hemiparesis Myocardial infarction Cardiomegaly Areflexia Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Webbed neck Dental malocclusion Premature birth Intestinal malrotation Vesicoureteral reflux Narrow palate Oculomotor apraxia Chronic otitis media Deep philtrum Cubitus valgus Melanocytic nevus Pleural effusion Hyperextensibility of the finger joints Sparse eyebrow Bilateral ptosis Failure to thrive in infancy Brittle hair Redundant skin Hyperextensible skin Cutis laxa Poor suck Relative macrocephaly Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Abnormal aortic valve morphology Patchy alopecia Abnormality of the pulmonary artery Ridged nail Subungual hyperkeratotic fragments Anal mucosal leukoplakia Enlargement of parotid gland Plantar pits Acrokeratosis Palmar pits Fractures of the long bones Bone cyst Fragile nails Diabetes mellitus Bipolar affective disorder Aniridia Fragile skin Skin vesicle Sensorineural hearing impairment Schizophrenia Psychosis Pain Abnormality of brainstem morphology Brachydactyly Glaucoma Generalized amyotrophy Everted lower lip vermilion Eclabion Subungual hyperkeratosis Congenital nonbullous ichthyosiform erythroderma Lack of skin elasticity Short finger External genital hypoplasia Anhidrosis Short toe Small nail Paralysis Weight loss Abnormality of the pinna Patchy palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Generalized hyperkeratosis Irregular hyperpigmentation Neoplasm of the skin Hypertrichosis Tapered finger Protruding ear Telangiectasia of the skin Hemiplegia/hemiparesis Excessive wrinkled skin Full cheeks Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Abnormal tricuspid valve morphology Morphological abnormality of the gastrointestinal tract Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Puberty and gonadal disorders Cutaneous T-cell lymphoma Aplasia/Hypoplasia of the cerebellum Trichorrhexis nodosa Telangiectasia Abnormality of extrapyramidal motor function Sensory neuropathy Vertigo Paresthesia Abnormal pyramidal sign Myoclonus Spasticity Muscle weakness Chronic diarrhea Inappropriate crying Sparse scalp hair Rigidity Recurrent cutaneous fungal infections Hyperkeratosis with erythema Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Stroke Peripheral axonal neuropathy Abnormal bleeding Nail dysplasia Aganglionic megacolon Omphalocele Choanal atresia Abnormality of the ribs Oligohydramnios Anemia Postaxial hand polydactyly Specific learning disability Ectodermal dysplasia Hypoplasia of dental enamel Brain atrophy Postaxial polydactyly Pulmonary hypoplasia Talipes Platyspondyly Visual impairment Hip dislocation Camptodactyly of finger Camptodactyly Renal dysplasia Abnormal vertebral morphology Photophobia Abnormal corpus callosum morphology Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Poor head control Cortical dysplasia Intestinal obstruction Bifid scrotum Unilateral renal agenesis Abnormality of peripheral nerve conduction Urticaria Optic disc hypoplasia Abnormality of the hand Plagiocephaly Opacification of the corneal stroma Abnormality of dental enamel Conjunctivitis Recurrent bacterial infections Hemivertebrae Multicystic kidney dysplasia Perisylvian polymicrogyria Mental deterioration Polydactyly Atonic seizures Petechiae Concave nasal ridge Chronic lung disease Hepatitis Prolonged neonatal jaundice Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Increased antibody level in blood Abnormality of the middle ear Osteomyelitis Systemic lupus erythematosus Reduced bone mineral density Abnormality of the fingernails Recurrent pneumonia Bilateral single transverse palmar creases Low anterior hairline Skin ulcer Abnormality of retinal pigmentation White forelock Poliosis Abnormality of metabolism/homeostasis Intrauterine growth retardation Dementia Severe short stature Cerebellar hypoplasia Obesity Dilatation Microphthalmia Hepatosplenomegaly Respiratory distress Elevated hepatic transaminase Carious teeth Facial hirsutism Arachnodactyly Hirsutism Cleft palate Asthma Convex nasal ridge Dehydration Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Intellectual disability, progressive Ectrodactyly Abdominal distention Clinodactyly of the 5th finger EEG abnormality Coarse facial features Osteopenia Gastroesophageal reflux Polyhydramnios Abnormality of eye movement Posteriorly rotated ears Constipation Abnormal heart morphology Telecanthus Encephalopathy Pectus excavatum Depressivity Cerebral atrophy Long philtrum Behavioral abnormality Hypertonia Blindness Edema Aggressive behavior Low-set, posteriorly rotated ears Cardiomyopathy Prominent nasal bridge Sleep disturbance High, narrow palate Hepatic steatosis Thick vermilion border Retinal dystrophy Bruising susceptibility Bulbous nose Falls Joint hypermobility Abnormal lung morphology Feeding difficulties in infancy Pulmonic stenosis Hypermetropia Abnormality of the cerebral white matter Neurological speech impairment Leukemia Pectus carinatum Abnormal cardiac septum morphology Severe global developmental delay Irritability Atrial septal defect Hydrocephalus Oligodactyly Hypoplastic fingernail Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Heat intolerance Abnormal nasolacrimal system morphology Follicular hyperkeratosis Nephrotic syndrome Abnormal eyelid morphology Pachygyria Blepharitis Progressive microcephaly Parakeratosis Uveitis Short chin Subcortical cerebral atrophy Abnormality of temperature regulation Short neck Neoplasm Anteverted nares Ventricular septal defect Dysphagia Macrocephaly Dysarthria Epicanthus Low-set ears Polymicrogyria Polyneuropathy Generalized hypotonia Hyperconvex fingernails Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Thin nail



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