Cognitive impairment, and Ectodermal dysplasia

Diseases related with Cognitive impairment and Ectodermal dysplasia

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Ectodermal dysplasia that can help you solving undiagnosed cases.


Top matches:

Low match ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME


Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME Is also known as edss|edss1

Related symptoms:

  • Cognitive impairment
  • Syndactyly
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME

Low match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME


CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Low match HIDROTIC ECTODERMAL DYSPLASIA


Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.

HIDROTIC ECTODERMAL DYSPLASIA Is also known as ectodermal dysplasia 2, clouston type|ectodermal dysplasia, hidrotic, 2, formerly|ectd2|clouston hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|clouston syndrome|hed2, formerly

Related symptoms:

  • Short stature
  • Strabismus
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIDROTIC ECTODERMAL DYSPLASIA

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Other less relevant matches:

Low match TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

Low 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

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS


Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS Is also known as bullous congenital ichthyosiform erythroderma of brock|epidermolytic ichthyosis|bie|bullous congenital ichthyosiform erythroderma|ehk|bullous erythroderma ichthyosiformis congenita of brocq|bcie|bullous ichthyosiform erythroderma|ichthyosis hystrix brocq

Related symptoms:

  • Growth delay
  • Hyperhidrosis
  • Hyperkeratosis
  • Weight loss
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

Low match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Low match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Ectodermal dysplasia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hyperhidrosis Common - Between 50% and 80% cases
Sparse hair Common - Between 50% and 80% cases
Sparse eyelashes Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Ectodermal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Finger syndactyly Nail dysplasia Short stature Seizures Syndactyly Cleft palate Hypotrichosis Alopecia Global developmental delay Growth delay Palmoplantar keratoderma Sparse and thin eyebrow Micrognathia Microcephaly Palmoplantar hyperkeratosis Sparse scalp hair Scaling skin Macrotia Nail dystrophy Hyperkeratosis Abnormality of dental enamel Carious teeth Brittle hair Hypohidrosis Cleft upper lip Erythema EEG abnormality Toe syndactyly Hypodontia Recurrent respiratory infections Scoliosis Wide nasal bridge Polydactyly Protruding ear Bilateral single transverse palmar creases Abnormality of dental morphology Strabismus Hearing impairment Abnormality of the kidney Hypoplasia of dental enamel Epidermal acanthosis Downslanted palpebral fissures Cutaneous finger syndactyly Heat intolerance Cleft lip Pili torti

Rare Symptoms - Less than 30% cases


Abnormality of the philtrum Ventriculomegaly Aplasia/Hypoplasia of the eyebrow Delayed skeletal maturation Generalized hypotonia Abnormality of cardiovascular system morphology Hypoplasia of the corpus callosum Abnormality of the skeletal system Camptodactyly Abnormal facial shape Weight loss Brachydactyly Ichthyosis Delayed speech and language development Muscular hypotonia Absent eyebrow Joint laxity Intrauterine growth retardation Congenital ichthyosiform erythroderma Multicystic kidney dysplasia Abnormality of the nail Recurrent skin infections Erythroderma Abnormality of the hair Omphalocele Progressive hypotrichosis Mixed hearing impairment Ectrodactyly Papule Oligodactyly Postaxial hand polydactyly Nystagmus Talipes Cryptorchidism Feeding difficulties Hypoplastic toenails Abnormality of the ear Hypoplasia of teeth Cutaneous syndactyly of toes Microphthalmia Hypogonadism Hand polydactyly Anodontia Low-set ears Conjunctivitis Skin ulcer Microdontia Midface retrusion Wide intermamillary distance Synophrys Bilateral cleft lip and palate Gastroesophageal reflux Umbilical hernia Ventricular septal defect Photophobia Hyperlordosis Highly arched eyebrow Neurological speech impairment Hydronephrosis Dystrophic toenail Malar flattening Scrotal hypoplasia Patchy alopecia Corneal opacity Hernia Abnormal nasolacrimal system morphology Inguinal hernia Alopecia totalis Palmar hyperkeratosis Camptodactyly of finger Agenesis of corpus callosum Dystrophic fingernails Sparse lateral eyebrow Small nail Abnormality of the ureter Scarring Fragile nails Blepharitis Oral cleft Stridor Anophthalmia Chorioretinal coloboma Vertebral fusion Mild short stature Open bite Supernumerary nipple Hypermelanotic macule Short finger Macule Colitis Abnormality of digit Narrow nasal bridge Anteriorly placed anus Aplasia/Hypoplasia of the skin Telangiectasia of the skin Ectropion Split hand Ectopia lentis Iris coloboma Overgrowth Abnormality of the skin Dental malocclusion Short metacarpal Intestinal malrotation Broad nasal tip Delayed eruption of teeth Abnormality of skin pigmentation Interphalangeal joint contracture of finger Facial asymmetry Abnormality of the foot Pruritus Microtia Cough Abnormal cardiac septum morphology Coloboma Abnormality of the pinna Congenital diaphragmatic hernia Renal hypoplasia Short metatarsal Congenital hip dislocation Dermal atrophy Reduced number of teeth Reduced visual acuity Arnold-Chiari malformation Oligodontia Renal hypoplasia/aplasia Spina bifida occulta Horseshoe kidney Pointed chin Thin skin Increased body weight Short ribs Hoarse voice Spina bifida Short phalanx of finger Abnormality of epiphysis morphology Telangiectasia Subcutaneous nodule Hypoplastic nipples Upper limb asymmetry Aplasia cutis congenita Giant cell tumor of bone Skin vesicle Cutaneous photosensitivity Dehydration Abnormal blistering of the skin Sepsis Confusion Midclavicular aplasia Midclavicular hypoplasia Apocrine hidrocystoma Poor appetite Cholesteatoma Linear hyperpigmentation Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Nonproductive cough Osteopathia striata Fragile skin Disseminated intravascular coagulation Abnormality of the mediastinum Abnormality of eye movement Anhidrosis Pterygium Hypoplasia of the zygomatic bone Bilateral cleft lip Abnormal dermatoglyphics Triangular face Postnatal microcephaly Inability to walk Abnormality of the eye Generalized hyperkeratosis Constipation Absent speech Cerebellar atrophy Visual impairment Conjunctival hamartoma Hypernatremic dehydration Hypernatremia Congenital bullous ichthyosiform erythroderma Cleft ala nasi Abnormal palmar dermatoglyphics Facial cleft Truncus arteriosus Abnormality of the larynx Verrucae Ulcerative colitis Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Acute hepatic failure Diastasis recti Myelomeningocele Cholangitis Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Aniridia Short clavicles Labial hypoplasia Anomalous pulmonary venous return Caudal appendage Absent toenail Ridged fingernail Absence of the sacrum Abnormal heart morphology Reticular hyperpigmentation Absent fingernail Foot oligodactyly Abnormality of the middle ear Rough bone trabeculation Clitoral hypoplasia Skin nodule Inspiratory stridor Papilloma Total anomalous pulmonary venous return Abnormality of hair texture Abnormal cornea morphology Hand oligodactyly Ureteral duplication Bifid nose Abdominal pain Unilateral renal agenesis Patent ductus arteriosus Joint hyperflexibility Recurrent urinary tract infections Hip dysplasia Growth hormone deficiency Vesicoureteral reflux Nevus Thick eyebrow Bulbous nose Joint hypermobility Genu valgum Bone pain Delayed puberty Stroke Joint stiffness Low-set, posteriorly rotated ears Conductive hearing impairment Deeply set eye Thin upper lip vermilion Long philtrum Exotropia Gynecomastia Abnormality of nail color Spinal cord compression Absent toe Hydrometrocolpos Prune belly Multiple exostoses Thick nasal alae Vaginal atresia Avascular necrosis of the capital femoral epiphysis Oligospermia Cone-shaped epiphyses of the phalanges of the hand Joint dislocation Exostoses Increased number of teeth Cone-shaped epiphysis Preaxial polydactyly Redundant skin Deep philtrum Recurrent upper respiratory tract infections Abnormal palate morphology Scapular winging Talipes equinovarus Absent pubic hair Mild postnatal growth retardation Depressed nasal bridge Trigonocephaly Cerebellar vermis hypoplasia Dandy-Walker malformation Hematuria Craniosynostosis Proteinuria Prominent forehead Epicanthus Hypertelorism Nephritis 2-3 toe cutaneous syndactyly Epidermal hyperkeratosis Absent facial hair Ridged nail Conical tooth Coarse hair Widely spaced teeth Cutaneous syndactyly Sparse eyebrow Scaphocephaly Hidrotic ectodermal dysplasia Sparse pubic hair Absent axillary hair Clubbing of toes Hyperconvex nail Hypohidrotic ectodermal dysplasia Slow-growing hair Craniofacial hyperostosis Thick nail Onycholysis Clubbing of fingers Tubulointerstitial nephritis Sparse axillary hair Fair hair Irregular hyperpigmentation Generalized hyperpigmentation Clubbing Hyperpigmentation of the skin Fine hair Cataract Posterior fossa cyst Aplasia/Hypoplasia of the mandible Persistent cloaca Clinodactyly Absent eyelashes Oxycephaly Thin eyebrow Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Follicular hyperkeratosis Corneal erosion Abnormal eyelid morphology Abnormal eyelash morphology Cheilitis Alopecia of scalp Parakeratosis Uveitis Submucous cleft hard palate Atonic seizures Abnormality of the vertebral column Absent septum pellucidum Hydroureter Alopecia universalis Abnormality of the upper urinary tract Intestinal obstruction Ichthyosis follicularis Obesity Blindness Hydrocephalus Dysphagia Optic atrophy Ptosis Neoplasm Unilateral chest hypoplasia Abnormal pelvis bone morphology Corneal scarring Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Subcortical cerebral atrophy Keratitis Bifid scrotum Rib exostoses Kyphosis Mental deterioration Cerebral cortical atrophy Dementia Severe short stature Cerebellar hypoplasia Recurrent infections Dilatation Immunodeficiency Intellectual disability, severe Respiratory tract infection Respiratory distress Frontal bossing Myopia Flexion contracture Failure to thrive Redundant skin in infancy Multiple long-bone exostoses Scapular exostoses Developmental regression Hip dislocation Psoriasiform dermatitis Aganglionic megacolon Urticaria Abnormality of the hand Plagiocephaly Opacification of the corneal stroma Recurrent bacterial infections Hemivertebrae Abnormal vertebral morphology Renal dysplasia Choanal atresia Platyspondyly Abnormality of the ribs Oligohydramnios Eczema Specific learning disability Brain atrophy Postaxial polydactyly Pulmonary hypoplasia Dry skin Astigmatism Anteverted ears



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