Intellectual disability, severe, and Ichthyosis

Diseases related with Intellectual disability, severe and Ichthyosis

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

Top matches:

Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome|amr syndrome|apmr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

High match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

High match REFSUM DISEASE

Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

Other less relevant 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

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

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

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

Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).For a discussion of genetic heterogeneity of TTD, see {601675}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Cognitive impairment
  • Ichthyosis


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2

Medium match IRIDA SYNDROME

IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.

IRIDA SYNDROME Is also known as anemia, hypochromic microcytic, with defect in iron metabolism|iron-refractory iron deficiency anemia|pseudo-iron-deficiency anemia|iron-handling disorder, hereditary

Related symptoms:

  • Intellectual disability
  • Anemia
  • Peripheral neuropathy
  • Fatigue
  • Hyperkeratosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about IRIDA SYNDROME

Adult-onset neuronal ceroid lipofuscinosis, also known as Kufs disease, is a neurodegenerative disorder without retinal involvement. There are 2 overlapping phenotypes: type A, characterized by progressive myoclonic epilepsy, and type B, characterized by dementia and a variety of motor-system signs (summary by Arsov et al., 2011).In general, the neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). The ultrastructural pattern of lipopigment in CLN4 comprises a mixed pattern of 'granular,' 'curvilinear,' and 'fingerprint' profiles. (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Blindness
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Alopecia Hearing impairment Muscular hypotonia Growth delay Scoliosis Dry skin Macrotia Ataxia Cryptorchidism Sensorineural hearing impairment Palmoplantar keratoderma Nystagmus Microphthalmia Abnormality of the eye Cataract Peripheral neuropathy Abnormality of the dentition Depressed nasal bridge Failure to thrive Hyperkeratosis Abnormality of vision Cleft palate Hypotrichosis Hernia Frontal bossing Cerebral cortical atrophy Delayed skeletal maturation Hyperhidrosis Flexion contracture

Rare Symptoms - Less than 30% cases

Nevus Optic atrophy Agenesis of corpus callosum Alopecia of scalp Pulmonic stenosis Congestive heart failure Hypoplasia of the corpus callosum Downslanted palpebral fissures Wide nasal bridge Absent eyelashes Pulmonary hypoplasia Dementia Hydronephrosis Hypertelorism Abnormal eyelash morphology Umbilical hernia Inguinal hernia Submucous cleft hard palate Severe short stature Ventriculomegaly Epicanthus Micrognathia Delayed CNS myelination Brittle hair Congenital ichthyosiform erythroderma Abnormality of epiphysis morphology Palmoplantar hyperkeratosis Feeding difficulties Myopia Kyphosis High palate Hydroureter Atrial septal defect Absent eyebrow Polymicrogyria Long face Dolichocephaly Severe global developmental delay Neoplasm Malar flattening Blindness Behavioral abnormality Progressive visual loss Abnormality of the nail Optic nerve hypoplasia Plagiocephaly Hemivertebrae Renal dysplasia Aganglionic megacolon Postaxial hand polydactyly Nail dysplasia Nail dystrophy Ptosis Vesicoureteral reflux Intellectual disability, progressive Aplasia/Hypoplasia of the eyebrow Sparse body hair Hydrocephalus Intrauterine growth retardation Low-set ears Alopecia universalis Scaling skin Hypoplasia of the bladder Falls Abnormality of metabolism/homeostasis Mental deterioration Abnormality of the kidney Abnormality of eye movement Photophobia Respiratory tract infection Developmental regression Cerebral atrophy Erythema Scarring Splenomegaly Cardiomyopathy Respiratory insufficiency Depressivity EEG abnormality Astigmatism Hyperextensible skin Long palpebral fissure Deep philtrum Abnormality of the sternum Abnormal heart valve morphology Multiple cafe-au-lait spots Poor suck Infantile spasms Pleural effusion Neurofibromas Ectropion Delayed gross motor development Heart murmur Chronic otitis media Cubitus valgus Obsessive-compulsive behavior Melanocytic nevus Large for gestational age Redundant skin Open bite Malnutrition Sparse eyebrow Bilateral ptosis Neurodevelopmental delay Failure to thrive in infancy Relative macrocephaly Abnormality of the cardiovascular system Abnormality of the genitourinary system Bulbous nose Intestinal malrotation Full cheeks Abnormal bleeding Abdominal distention Sleep disturbance High, narrow palate Hepatic steatosis Thick vermilion border Retinal dystrophy Bruising susceptibility Joint hypermobility Dental malocclusion Abnormality of skin pigmentation Peripheral axonal neuropathy Genu valgum Hypermetropia Abnormality of the cerebral white matter Pruritus Neurological speech impairment Leukemia Pectus carinatum Abnormal cardiac septum morphology Sparse hair Premature birth Webbed neck Sleep apnea Cafe-au-lait spot Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Oculomotor apraxia Sparse eyelashes Narrow palate Aspiration Cerebral visual impairment Hyperpigmentation of the skin Lymphedema Thickened skin Growth hormone deficiency Decreased body weight Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Fine hair Low posterior hairline Coarctation of aorta Cardiomegaly Narrow forehead Curly hair Biparietal narrowing Multiple lentigines Generalized hyperpigmentation Congenital nonbullous ichthyosiform erythroderma Reticulocytosis Iron deficiency anemia Microcytic anemia Abnormal intestine morphology Malabsorption Pallor Fatigue Anemia Tiger tail banding Decreased fertility Anisocytosis Coarse hair Cutaneous photosensitivity Cognitive impairment Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Intrahepatic cholestasis Poikilocytosis Puberty and gonadal disorders Leukoencephalopathy Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Intracellular accumulation of autofluorescent lipopigment storage material Auditory hallucinations Vegetative state Visual hallucinations Athetosis Abnormality of extrapyramidal motor function Hypochromic microcytic anemia Bradykinesia Retinal degeneration Confusion Myoclonus Dystonia Cerebellar atrophy Elevated hepcidin level Decreased serum iron Hypocupremia Decreased mean corpuscular volume Morphological abnormality of the gastrointestinal tract Abnormal location of ears Anal stenosis Thick upper lip vermilion Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Woolly hair Thickened helices Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Enlarged kidney Arnold-Chiari type I malformation Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Slow-growing hair Subvalvular aortic stenosis Abnormality of the hairline Abnormality of the optic disc Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Anterior creases of earlobe Abnormal aortic valve morphology Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Feeding difficulties in infancy Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Irritability Alopecia totalis Low-set, posteriorly rotated ears Limitation of joint mobility Flared metaphysis Congenital contracture Epiphyseal dysplasia Spina bifida occulta Rhizomelia Abnormality of the metaphysis Congenital diaphragmatic hernia Limb undergrowth Short distal phalanx of finger Severe failure to thrive Flat face Congenital cataract Cleft lip Kyphoscoliosis Upslanted palpebral fissure Spasticity Pain Optic disc hypoplasia Diffuse palmoplantar keratoderma Epiphyseal stippling Polysplenia Abnormal corpus callosum morphology Recurrent respiratory infections Talipes Platyspondyly Papule Hip dislocation Corneal opacity Camptodactyly of finger Camptodactyly Polydactyly Cerebellar hypoplasia Concave nasal ridge Recurrent infections Dilatation Immunodeficiency Respiratory distress Pregnancy exposure Calcific stippling of infantile cartilaginous skeleton Bilateral cleft palate Coronal cleft vertebrae Multiple epiphyseal dysplasia Perisylvian polymicrogyria Abnormality of peripheral nerve conduction Brain atrophy Convex nasal ridge Skeletal dysplasia Pes cavus Renal insufficiency Skeletal muscle atrophy Visual impairment Abnormality of brain morphology Renal hypoplasia Decreased testicular size Iris coloboma Nyctalopia Protruding ear Short corpus callosum Abnormality of skeletal morphology Abnormal nasal morphology Hypergonadotropic hypogonadism Split hand Sparse scalp hair Intellectual disability, mild Brachydactyly Retinopathy Abnormal pyramidal sign Cortical dysplasia Proteinuria Poor head control Short chin Progressive microcephaly Pachygyria Depressed nasal ridge Nephrotic syndrome Polyneuropathy Prominent nasal bridge Stroke Hypogonadism Abnormality of the foot Areflexia Abnormal facial shape Miosis Heart block Hemiplegia/hemiparesis Hammertoe Anosmia Abnormality of retinal pigmentation Short metacarpal Postaxial polydactyly Ectodermal dysplasia Telecanthus Strabismus Short neck Anteverted nares Ventricular septal defect Dysphagia Macrocephaly Dysarthria Hepatomegaly Delayed speech and language development Generalized hypotonia Vomiting Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Edema Hypertonia Abnormal nasolacrimal system morphology Autism Hypertrophic cardiomyopathy Aggressive behavior Coarse facial features Osteopenia Gastroesophageal reflux High forehead Polyhydramnios Proptosis Prominent forehead Short nose Posteriorly rotated ears Constipation Clinodactyly of the 5th finger Abnormal heart morphology Encephalopathy Pectus excavatum Thrombocytopenia Abnormality of cardiovascular system morphology Long philtrum Abnormality of temperature regulation Subcortical cerebral atrophy Specific learning disability Multicystic kidney dysplasia Erythroderma Psoriasiform dermatitis Urticaria Abnormality of the hand Opacification of the corneal stroma Abnormality of dental enamel Conjunctivitis Recurrent bacterial infections Abnormality of the hair Bifid scrotum Abnormal vertebral morphology Hypohidrosis Hypoplasia of dental enamel Omphalocele Choanal atresia Epidermal acanthosis Abnormality of the ribs Oligohydramnios Eczema Unilateral renal agenesis Intestinal obstruction Corneal scarring Corneal erosion Abnormality of the upper urinary tract Cheilitis Oxycephaly Thin eyebrow Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Heat intolerance Follicular hyperkeratosis Abnormal eyelid morphology Keratitis Blepharitis Parakeratosis Uveitis Oligodactyly Ectrodactyly Atonic seizures Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Granular osmiophilic deposits (GROD) in cells


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