Intellectual disability, severe, and Ectodermal dysplasia

Diseases related with Intellectual disability, severe and Ectodermal dysplasia

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


Top matches:

High match X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

High match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

High match GENITOPATELLAR SYNDROME


Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

GENITOPATELLAR SYNDROME Is also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GENITOPATELLAR SYNDROME

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Other less relevant matches:

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

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Ectodermal dysplasia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2

Medium match HYPOHIDROSIS-ENAMEL HYPOPLASIA-PALMOPLANTAR KERATODERMA-INTELLECTUAL DISABILITY SYNDROME


Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.

HYPOHIDROSIS-ENAMEL HYPOPLASIA-PALMOPLANTAR KERATODERMA-INTELLECTUAL DISABILITY SYNDROME Is also known as shaheen syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Delayed speech and language development
  • Fever
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOHIDROSIS-ENAMEL HYPOPLASIA-PALMOPLANTAR KERATODERMA-INTELLECTUAL DISABILITY SYNDROME

Medium 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

Medium match ODONTO-ONYCHO-DERMAL DYSPLASIA


Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.

ODONTO-ONYCHO-DERMAL DYSPLASIA Is also known as oodd

Related symptoms:

  • Intellectual disability
  • Hyperhidrosis
  • Photophobia
  • Erythema
  • Sparse hair


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ODONTO-ONYCHO-DERMAL DYSPLASIA

Medium match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Medium 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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Abnormal facial shape Hyperhidrosis Sparse hair Nail dysplasia Short stature Hypohidrosis Nail dystrophy Cleft palate Abnormality of the kidney Agenesis of permanent teeth Depressed nasal bridge Conical tooth Anhidrotic ectodermal dysplasia Frontal bossing Downslanted palpebral fissures Abnormality of the dentition Brachydactyly Generalized hypotonia Flexion contracture Hypertelorism Micrognathia Low-set ears Talipes Muscular hypotonia Sparse scalp hair Fine hair Oligodontia Hypotrichosis Dry skin Hearing impairment

Rare Symptoms - Less than 30% cases


Cryptorchidism Midface retrusion Long philtrum Talipes equinovarus Ventricular septal defect Epidermal acanthosis Agenesis of corpus callosum Sensorineural hearing impairment Absent speech Blepharitis Keratitis Abnormality of dental morphology Bilateral talipes equinovarus Abnormality of digit Intellectual disability, profound Inguinal hernia Hernia Downturned corners of mouth Abnormality of the hand Short palm Postnatal microcephaly Palmoplantar hyperkeratosis Gastroesophageal reflux Prominent nasal bridge Hydronephrosis Wide nose Reduced number of teeth Hypoplasia of the corpus callosum Anonychia High forehead Pulmonary hypoplasia Prominent nose Hypoplasia of dental enamel Osteoporosis Selective tooth agenesis Ventriculomegaly Camptodactyly Multicystic kidney dysplasia Short columella Thin skin Erythema Sparse body hair Anhidrosis Absent eyebrow Photophobia Hyperkeratosis Sparse and thin eyebrow Eczema Anodontia Respiratory distress Hypodontia Delayed eruption of teeth Short distal phalanx of finger Respiratory tract infection Prominent forehead Recurrent respiratory infections Immunodeficiency Absent eyelashes Sparse eyelashes Heat intolerance Strabismus Fever Growth delay Microphthalmia Erythroderma Cerebellar hypoplasia Unilateral renal agenesis Bifid scrotum Palmoplantar keratoderma Brain atrophy Alopecia Intestinal obstruction Delayed skeletal maturation Recurrent infections Abnormality of the ribs Mixed hearing impairment Hydroureter Psoriasiform dermatitis Oligohydramnios Absent septum pellucidum Abnormality of the vertebral column Congenital ichthyosiform erythroderma Atonic seizures Ectrodactyly Oligodactyly Dilatation Submucous cleft hard palate Uveitis Parakeratosis Alopecia of scalp Severe short stature Postaxial polydactyly Renal dysplasia Recurrent bacterial infections Camptodactyly of finger Scarring Corneal opacity Abnormal vertebral morphology Hip dislocation Developmental regression Abnormality of the hair Papule Abnormality of the nail Mental deterioration Platyspondyly Hemivertebrae Aganglionic megacolon Astigmatism Dementia Conjunctivitis Umbilical hernia Abnormality of dental enamel Opacification of the corneal stroma Macrotia Postaxial hand polydactyly Omphalocele Plagiocephaly Polydactyly Cerebral cortical atrophy Choanal atresia Urticaria Scaling skin Ichthyosis Specific learning disability Stooped posture Abnormal eyelash morphology Toe syndactyly Triphalangeal thumb Gingival overgrowth Hypertrichosis Small nail Bilateral sensorineural hearing impairment Hypotelorism Joint hypermobility Dolichocephaly Aplasia cutis congenita Deeply set eye Pes planus Abnormality of primary teeth Smooth tongue Conical incisor Palmoplantar hyperhidrosis Orthokeratosis Plantar hyperkeratosis Congenital sensorineural hearing impairment Severe sensorineural hearing impairment Dry hair Dandy-Walker malformation Tubulointerstitial nephritis Scaphocephaly Hypoplastic toenails Nephritis Sparse eyebrow Trigonocephaly Cerebellar vermis hypoplasia Hematuria High-frequency hearing impairment Craniosynostosis Proteinuria Epicanthus Cognitive impairment Bilateral triphalangeal thumbs Hidrotic ectodermal dysplasia Absent toenail Hypoplasia of teeth Persistence of primary teeth Hypergranulosis Abnormal eyelid morphology Cheilitis Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Alopecia universalis Cerebral cortical hemiatrophy Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Follicular hyperkeratosis Corneal erosion Paronychia Hypoplasia of the bladder Dystrophic fingernails Constipation Dystrophic toenail Epiphora Neoplasm of the skin Inability to walk Abnormality of eye movement Abnormality of the eye EEG abnormality Cerebellar atrophy Scleritis Visual impairment Mild microcephaly Hepatitis Carious teeth Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Kyphosis Full cheeks Intrauterine growth retardation Postnatal growth retardation Poor speech Facial asymmetry Abnormality of the foot Abnormality of the cerebral white matter Broad forehead Short philtrum Attention deficit hyperactivity disorder Joint laxity Smooth philtrum Aggressive behavior Anxiety Thin upper lip vermilion Osteopenia Autism Narrow mouth Hyperactivity Joint hyperflexibility Arachnodactyly Posteriorly rotated ears Short palpebral fissure Drooling Microretrognathia Long eyelashes Dental crowding Broad thumb Broad-based gait Hemiparesis Decreased testicular size Long face Convex nasal ridge Febrile seizures Dental malocclusion Sleep disturbance Thick eyebrow Bulbous nose Thin vermilion border Brachycephaly Clinodactyly of the 5th finger Relative macrocephaly Hoarse voice Hypoplastic nipples Aplasia/Hypoplasia of the eyebrow Brittle hair Prominent supraorbital ridges Dysphonia Short chin Type I diabetes mellitus Depressed nasal ridge Soft skin Microdontia Underdeveloped nasal alae Hypoplasia of the maxilla Everted lower lip vermilion Thick vermilion border Short nose Hypertension Rhinitis Taurodontia Malar flattening Spasticity Behavioral abnormality Anteverted nares Macrocephaly Wide nasal bridge Hyperreflexia High palate Ptosis Hypoplastic-absent sebaceous glands Anterior hypopituitarism Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Periorbital wrinkles Everted upper lip vermilion Abnormal oral mucosa morphology Hypohidrotic ectodermal dysplasia Absent nipple Concave nail Tented upper lip vermilion Dermal atrophy Myopia Clitoral hypertrophy Hypoplastic ilia Beaking of vertebral bodies Hypoplastic labia majora Patellar dislocation Hip contracture Anteriorly placed anus Ectopic kidney Radioulnar synostosis Labial hypoplasia Laryngomalacia Abnormality of the genitourinary system Scrotal hypoplasia Intellectual disability, progressive Knee flexion contracture Congenital hip dislocation Short phalanx of finger Patellar aplasia Colpocephaly Heterotopia Small scrotum Failure to thrive Nystagmus Scoliosis Hypoplastic inferior pubic rami Scrotal hypospadias Enlarged labia minora Absent scrotum Tongue thrusting Patellar hypoplasia Abnormal bone structure Periventricular gray matter heterotopia Talipes calcaneovalgus Clitoral hypoplasia Hypoplastic ischia Calcaneovalgus deformity Primary hypothyroidism Recurrent urinary tract infections Narrow forehead Overlapping toe Generalized osteoporosis Large beaked nose Median cleft palate Toe clinodactyly Happy demeanor Pes valgus Overbite Excessive salivation Cleft soft palate Incomprehensible speech Broad hallux phalanx Self-mutilation Narrow nose Abnormality of the periventricular white matter Restlessness Long nose Myopathic facies Dacryocystitis Narrow maxilla Delayed puberty Micropenis Arthrogryposis multiplex congenita Severe global developmental delay Apnea Coarse facial features Kyphoscoliosis Polyhydramnios Hypothyroidism Upslanted palpebral fissure Conspicuously happy disposition Abnormal heart morphology Patent ductus arteriosus Hypospadias Abnormality of cardiovascular system morphology Edema Atrial septal defect Dysphagia Narrow jaw Posterior fossa cyst



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Anal atresia, related diseases and genetic alterations

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