Motor delay, and Ectodermal dysplasia

Diseases related with Motor delay and Ectodermal dysplasia

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

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

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly|bitemporal forceps marks syndrome|facial ectodermal dysplasia|setleis syndrome

Related symptoms:

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


SOURCES: OMIM MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.

SALDINO-MAINZER SYNDROME Is also known as renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|conorenal syndrome

Related symptoms:

  • Short stature
  • Cryptorchidism
  • Delayed speech and language development
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about SALDINO-MAINZER SYNDROME

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

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

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

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

Top 5 symptoms//phenotypes associated to Motor delay and Ectodermal dysplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Sparse hair Uncommon - Between 30% and 50% cases
Dry skin Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Ectodermal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Abnormal facial shape Generalized hypotonia Seizures Anhidrosis Microcephaly Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Diarrhea Postnatal microcephaly Hypohidrosis Pneumonia Low-set ears Recurrent infections Prominent forehead Chronic diarrhea Growth delay Talipes equinovarus Bulbous nose Low anterior hairline Dermal atrophy Recurrent respiratory infections Short stature Micrognathia Immunodeficiency Fever Anhidrotic ectodermal dysplasia Sparse eyebrow Sparse scalp hair Hypertelorism Feeding difficulties Heat intolerance Microdontia Encephalitis Neutropenia Sepsis Hypocalcemia Respiratory insufficiency due to muscle weakness Proteinuria Amelogenesis imperfecta Gowers sign Episodic fever Progressive encephalopathy Stomatitis Recurrent aphthous stomatitis Hematuria Craniosynostosis Hypoplasia of the thymus Lymphadenopathy Pectus excavatum Difficulty walking Sparse eyelashes Hypoplastic toenails Scaphocephaly Tubulointerstitial nephritis Protracted diarrhea Posterior fossa cyst Trigonocephaly Abnormality of the kidney Muscle weakness Encephalopathy Cerebellar vermis hypoplasia Dandy-Walker malformation Muscular hypotonia Spasticity Myopathy Thrombocytopenia Nephritis Pyelonephritis Abnormality of the pinna Hearing impairment Taurodontia Atresia of the external auditory canal Redundant skin Ectropion Cupped ear Aplasia/Hypoplasia of the eyebrow Long nose Aplasia/Hypoplasia of the skin Hypoplastic nipples Shawl scrotum Inverted nipples Skin tags Cutis laxa Absent nipple Gingival fibromatosis Sparse or absent eyelashes Breast aplasia Broad alveolar ridges Generalized hypertrichosis Abnormality of female external genitalia Mild hearing impairment Frontal hirsutism Ablepharon Hyperextensible skin Generalized hirsutism Cleft palate Microtia Wide nasal bridge Anteverted nares Short neck Hypospadias Mandibular prognathia Rigidity Conductive hearing impairment Telecanthus Ventricular septal defect Wide mouth Thin vermilion border Sparse and thin eyebrow Hirsutism High, narrow palate Delayed eruption of teeth Triangular face Dental malocclusion Underdeveloped nasal alae Abnormality of the skin Hypertrichosis Depressed nasal ridge Abnormality of the genital system Abnormality of the face Abnormality of the dentition Fine hair Downslanted palpebral fissures Scarring Absent speech Constipation Gastroesophageal reflux EEG abnormality Abnormality of the eye Abnormality of eye movement Inability to walk Upslanted palpebral fissure Pectus carinatum Hypoplasia of the corpus callosum Anal atresia Thick vermilion border Single transverse palmar crease Broad nasal tip Short palpebral fissure Conjunctivitis Abnormality of the sternum Aplasia cutis congenita Absent eyelashes Cerebellar atrophy Visual impairment Distichiasis Widely spaced teeth Scoliosis Nystagmus Syndactyly Abnormal heart morphology Abnormal cardiac septum morphology Prominent nasal bridge Thin skin Broad thumb Fragile nails Strabismus Premature loss of primary teeth Intellectual disability, profound Stooped posture Hyperkeratosis Carious teeth Hepatitis Hypoplasia of dental enamel Palmoplantar hyperkeratosis Mild microcephaly Periorbital fullness Multiple rows of eyelashes Epicanthus Bronchiectasis Thoracic dysplasia Lateral clavicle hook Horizontal ribs Frontal bossing Hepatosplenomegaly Arthritis Respiratory tract infection Hypodontia Leukocytosis Short thorax Agammaglobulinemia Conical tooth Concave nasal ridge Lymphocytosis Recurrent infection of the gastrointestinal tract Periorbital wrinkles Aplasia of the sweat glands Defective production of NFKB1-dependent cytokines Cognitive impairment Bell-shaped thorax Thoracic hypoplasia Absent lower eyelashes Polyhydramnios Aged leonine appearance Cryptorchidism Brachydactyly Respiratory insufficiency Respiratory distress Renal insufficiency Obesity Rod-cone dystrophy Polydactyly Cleft lip Metaphyseal widening Narrow chest Micromelia Oral cleft Stage 5 chronic kidney disease Postaxial polydactyly Short ribs Nephrocalcinosis Abnormality of the genitourinary system Short long bone Abnormality of male external genitalia


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