Intellectual disability, and Ectodermal dysplasia

Diseases related with Intellectual disability and Ectodermal dysplasia

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

Top matches:

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

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

Other less relevant matches:

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

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

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

Medium match BARBER-SAY SYNDROME

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY 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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

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

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

Symptoms // Phenotype % cases
Sparse hair Uncommon - Between 30% and 50% cases
Hypohidrosis Uncommon - Between 30% and 50% cases
Sparse and thin eyebrow Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microdontia Anodontia Sparse eyelashes Micrognathia Nail dysplasia Palmoplantar hyperkeratosis Hypodontia Downslanted palpebral fissures Hypotrichosis Hyperhidrosis Toe syndactyly Sparse scalp hair Dry skin EEG abnormality Abnormality of dental morphology Agenesis of permanent teeth Dystrophic toenail Dystrophic fingernails Midface retrusion Abnormality of the dentition Nail dystrophy Delayed speech and language development Anhidrotic ectodermal dysplasia Recurrent respiratory infections Carious teeth Abnormal facial shape Cleft palate Wide nasal bridge Anhidrosis Aplasia/Hypoplasia of the eyebrow

Rare Symptoms - Less than 30% cases

Abnormality of the kidney Highly arched eyebrow Depressed nasal ridge Cleft upper lip Oral cleft Conical tooth Abnormality of dental enamel Wide intermamillary distance Bilateral single transverse palmar creases Synophrys Scrotal hypoplasia Brittle hair Hypertrichosis Abnormality of the ear Cutaneous finger syndactyly Abnormality of the ureter Underdeveloped nasal alae Protruding ear Neurological speech impairment Taurodontia Hypogonadism Prominent forehead Syndactyly Malar flattening Macrotia Sparse eyebrow Absent nipple Cleft lip Triangular face Depressed nasal bridge Hypoplastic nipples Hyperlordosis Low-set ears Delayed eruption of teeth Hypertelorism Finger syndactyly Short distal phalanx of finger Bilateral cleft lip and palate Anonychia Feeding difficulties Reduced number of teeth Postnatal microcephaly Sparse body hair Selective tooth agenesis Fever Microcephaly Oligodontia Progressive hypotrichosis Pili torti Sparse lateral eyebrow Hearing impairment Abnormality of the philtrum Cutaneous syndactyly of toes Inverted nipples Generalized hypertrichosis Skin tags Sparse or absent eyelashes Hypohidrotic ectodermal dysplasia Gingival fibromatosis Broad alveolar ridges Breast aplasia Shawl scrotum Anterior hypopituitarism Concave nail Generalized hirsutism Abnormal oral mucosa morphology Aplasia/Hypoplasia of the skin Long nose Everted upper lip vermilion Mild hearing impairment Cupped ear Ectropion Redundant skin Periorbital wrinkles Atresia of the external auditory canal Dermal atrophy Periorbital hyperpigmentation Aplasia/Hypoplastia of the eccrine sweat glands Hyperextensible skin Abnormality of female external genitalia Rhinitis Frontal hirsutism Everted lower lip vermilion Bilateral cleft lip Pterygium Scaling skin Abnormal dermatoglyphics Anteverted ears Hypertension Frontal bossing Respiratory distress Intellectual disability, severe Short nose Immunodeficiency Respiratory tract infection Thick vermilion border Hypoplasia of the maxilla Ablepharon Eczema Thin skin Hoarse voice Type I diabetes mellitus Short chin Dysphonia Prominent supraorbital ridges Absent eyebrow Alopecia Hypoplasia of the zygomatic bone Absent eyelashes Soft skin Abnormality of male external genitalia Heat intolerance Cutis laxa Growth delay Low anterior hairline Smooth tongue Blepharitis Hypergranulosis Dry hair Persistence of primary teeth Plantar hyperkeratosis Orthokeratosis Palmoplantar hyperhidrosis Conical incisor Abnormality of primary teeth Keratitis Sensorineural hearing impairment Brachydactyly High forehead Pes planus Deeply set eye Dolichocephaly Joint hypermobility Hypotelorism Bilateral sensorineural hearing impairment Epiphora Neoplasm of the skin Gingival overgrowth Hypoplasia of the corpus callosum Intellectual disability, profound Stooped posture Hyperkeratosis Hepatitis Hypoplasia of dental enamel Mild microcephaly Generalized hypotonia Strabismus Visual impairment Cerebellar atrophy Fine hair Absent speech Constipation Gastroesophageal reflux Abnormality of the eye Abnormality of eye movement Inability to walk Photophobia Erythema Epidermal acanthosis Small nail Abnormality of the hand Abnormality of the face Telecanthus Failure to thrive Talipes equinovarus Anteverted nares Short neck Hypospadias Mandibular prognathia Rigidity Conductive hearing impairment Abnormality of the pinna Tubulointerstitial nephritis Wide mouth Microtia Thin vermilion border Bulbous nose Hirsutism High, narrow palate Dental malocclusion Abnormality of the skin Abnormality of the genital system Posterior fossa cyst Scaphocephaly Triphalangeal thumb Short stature Congenital sensorineural hearing impairment Abnormality of digit Aplasia cutis congenita Severe sensorineural hearing impairment High-frequency hearing impairment Hypoplasia of teeth Absent toenail Hidrotic ectodermal dysplasia Bilateral triphalangeal thumbs Cognitive impairment Hypoplastic toenails Epicanthus Ventricular septal defect Proteinuria Craniosynostosis Hematuria Dandy-Walker malformation Cerebellar vermis hypoplasia Trigonocephaly Nephritis Hypoplastic-absent sebaceous glands


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