Cognitive impairment, and Hypotrichosis

Diseases related with Cognitive impairment and Hypotrichosis

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

Top matches:

Medium match MONILETHRIX

Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.

MONILETHRIX Is also known as moniliform hair syndrome

Related symptoms:

  • Intellectual disability
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition
  • Hypotrichosis


SOURCES: ORPHANET MENDELIAN

More info about MONILETHRIX

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

Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL SHORT BOWEL SYNDROME

Other less relevant matches:

Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.

LAMELLAR ICHTHYOSIS Is also known as congenital lamellar ichthyosis|li|classic lamellar ichthyosis

Related symptoms:

  • Short stature
  • Cognitive impairment
  • Abnormality of the dentition
  • Renal insufficiency
  • Recurrent respiratory infections


SOURCES: ORPHANET MENDELIAN

More info about LAMELLAR ICHTHYOSIS

Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.

KERATODERMA HEREDITARIUM MUTILANS Is also known as khm|mutilating keratoderma|deafness, congenital, with keratopachydermia and constrictions of fingers and toes|vohwinkel syndrome|mutilating keratoderma of vohwinkel|mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|ppk mutilans and de

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KERATODERMA HEREDITARIUM MUTILANS

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

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Low match KEUTEL SYNDROME

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD 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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Hypotrichosis

Symptoms // Phenotype % cases
Alopecia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Abnormality of the nail Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hyperkeratosis Sparse scalp hair Palmoplantar keratoderma Abnormality of the dentition Ichthyosis Global developmental delay Aplasia/Hypoplasia of the eyebrow Fine hair Sensorineural hearing impairment Seizures Ectodermal dysplasia Dilatation Recurrent respiratory infections Hyperhidrosis Sparse hair Microcephaly Hydronephrosis Failure to thrive

Rare Symptoms - Less than 30% cases

Respiratory tract infection Palmoplantar hyperkeratosis Cataract Cleft palate Hypogonadotrophic hypogonadism Papule Cleft lip Dehydration Dry skin Erythroderma Macrotia Conjunctivitis Ventricular septal defect Abnormal nasolacrimal system morphology Camptodactyly Mental deterioration Hypothyroidism Micropenis Diabetes mellitus Intellectual disability, mild Frontal bossing Scoliosis Alopecia totalis Strabismus Hydroureter Fair hair Blepharitis Scaling skin Delayed skeletal maturation Nail dysplasia Hypertension Nail dystrophy Photophobia Severe short stature Underdeveloped nasal alae Steatorrhea Palmar hyperkeratosis Hepatic failure Malabsorption Mixed hearing impairment Diarrhea Abnormality of the hair Intrauterine growth retardation Epidermal acanthosis Cryptorchidism Sepsis Muscular hypotonia Growth delay Heat intolerance Absent eyebrow Small nail Hypoplasia of dental enamel Sparse and thin eyebrow Widely spaced teeth Abdominal distention Sparse eyelashes Patchy alopecia Follicular hyperkeratosis Dextrocardia Intellectual disability, severe Hemivertebrae Brittle hair Abnormal eyelash morphology Slow-growing hair Aganglionic megacolon Intestinal malrotation Portal hypertension Clitoral hypertrophy Absent lacrimal punctum Congenital sensorineural hearing impairment Anteriorly placed anus Colonic diverticula Soft, doughy skin Agenesis of permanent teeth Abnormality of the genitourinary system Glycosuria Oligodontia Abnormality of the nares Increased VLDL cholesterol concentration Facial cleft Costal cartilage calcification Hypoproteinemia Lacrimation abnormality Aplasia cutis congenita of scalp Skin dimples Frontal upsweep of hair Abnormality of the pancreas Uterus didelphys Abnormal hair pattern Hypopituitarism Calvarial skull defect Exocrine pancreatic insufficiency Calcification of the auricular cartilage Anal stenosis Abnormal vagina morphology Hypoplastic nipples Rectovaginal fistula Cartilaginous ossification of larynx Severe muscular hypotonia Atrial septal defect Anal atresia Anasarca Dilated cardiomyopathy Small for gestational age Abnormal cardiac septum morphology Abnormality of the liver Edema Postnatal growth retardation Single transverse palmar crease Joint laxity Elevated hepatic transaminase Upslanted palpebral fissure Clinodactyly of the 5th finger Short nose Abnormal heart morphology Hypospadias Abnormality of cardiovascular system morphology Downturned corners of mouth Cardiomyopathy Hyperbilirubinemia Cholestasis Pointed chin Hypocalcemia Cartilaginous ossification of nose Premature fusion of phalangeal epiphyses Situs inversus totalis Cafe-au-lait spot Long philtrum Generalized hypotonia Hypoplasia of penis Fatigue Microdontia Convex nasal ridge Growth hormone deficiency Anemia Generalized muscle weakness Hepatomegaly Hypoplasia of the maxilla Delayed eruption of teeth Septate vagina Developmental regression Malrotation of small bowel Absent septum pellucidum Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Keratitis Absent eyelashes Intestinal obstruction Bifid scrotum Unilateral renal agenesis Psoriasiform dermatitis Urticaria Abnormality of the hand Plagiocephaly Opacification of the corneal stroma Abnormality of dental enamel Alopecia of scalp Abnormal eyelid morphology Multicystic kidney dysplasia Abnormality of temperature regulation Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Subcortical cerebral atrophy Corneal erosion Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Recurrent bacterial infections Abnormal vertebral morphology Abnormality of the female genitalia Kyphosis Dementia Agenesis of corpus callosum Cerebellar hypoplasia Inguinal hernia Hernia Recurrent infections Microphthalmia Immunodeficiency Hypoplasia of the corpus callosum Polydactyly Respiratory distress Ventriculomegaly Myopia Feeding difficulties Flexion contracture Nystagmus Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Cerebral cortical atrophy Umbilical hernia Hypohidrosis Postaxial polydactyly Renal dysplasia Omphalocele Choanal atresia Abnormality of the ribs Oligohydramnios Eczema Postaxial hand polydactyly Specific learning disability Brain atrophy Pulmonary hypoplasia Abnormality of the kidney Astigmatism Talipes Platyspondyly Hip dislocation Corneal opacity Camptodactyly of finger Scarring Erythema Calcification of cartilage Tracheal atresia Long face Arterial calcification Hyperpigmentation of the skin Clubbing of fingers Sparse axillary hair Fragile nails Irregular hyperpigmentation Generalized hyperpigmentation Clubbing Hand polydactyly Skin ulcer Carious teeth Onycholysis Finger syndactyly Honeycomb palmoplantar keratoderma Epidermal thickening Ainhum Autoamputation of digits Abnormality of the spinal cord Plantar hyperkeratosis Leukonychia Sparse pubic hair Thick nail Xanthomatosis Delayed speech and language development Babinski sign Abnormality of metabolism/homeostasis Dystonia Gait disturbance Downslanted palpebral fissures Dysarthria Hyperreflexia Peripheral neuropathy High palate Craniofacial hyperostosis Hypertelorism Abnormality of nail color Absent pubic hair Hidrotic ectodermal dysplasia Absent axillary hair Clubbing of toes Hyperconvex nail Hypohidrotic ectodermal dysplasia Amniotic constriction ring Abnormal toenail morphology High forehead Ridged nail Increased body weight Chronic diarrhea Gastroesophageal reflux Vomiting 2-3 toe cutaneous syndactyly Epidermal hyperkeratosis Absent facial hair Hypoplasia of teeth Pili torti Malnutrition Conical tooth Cutaneous finger syndactyly Hypoplastic toenails Coarse hair Cutaneous syndactyly Syndactyly Abnormal eyebrow morphology Schizophrenia Pyloric stenosis Lipoatrophy Self-injurious behavior Ectropion Mutism Osteolysis Thickened skin Facial asymmetry Abnormality of the helix Lack of skin elasticity Gangrene Chronic otitis media Everted lower lip vermilion Volvulus Pruritus Renal insufficiency Abnormal peristalsis Decreased intestinal transit time Intestinal hypoplasia Congenital shortened small intestine Displacement of the external urethral meatus Absent hand Gastroparesis Hypogonadism Protruding ear Pulmonary artery hypoplasia Sloping forehead Cutis laxa Spontaneous abortion Leukodystrophy Sinusitis Short thumb Short phalanx of finger Recurrent otitis media Pulmonary arterial hypertension Cerebral calcification Growth abnormality Memory impairment Otitis media Asthma Wide nose Short distal phalanx of finger Infertility Pulmonic stenosis Carcinoma Progressive hearing impairment Deep philtrum Osteoporosis Recurrent bronchitis Obstructive lung disease Abdominal aortic aneurysm Papillary thyroid carcinoma Short nail Shortening of all distal phalanges of the fingers Peripheral pulmonary artery stenosis Thyroid carcinoma Chronic obstructive pulmonary disease Short hallux Dermal atrophy Chronic sinusitis Pulmonary artery stenosis Irregular vertebral endplates Epiphyseal stippling Recurrent sinusitis Emphysema Aortic aneurysm Nasal speech Respiratory failure Midface retrusion Prominent nasal bridge Amenorrhea Hypergonadotropic hypogonadism Hallucinations Choreoathetosis Primary amenorrhea Myocardial infarction Psychosis Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Decreased testicular size Hyperlipidemia Dental malocclusion Prominent nose Triangular face Polyneuropathy Sensory neuropathy Abnormality of movement Delayed puberty Arthrogryposis multiplex congenita Purpura Premature ovarian insufficiency Malar flattening Increased thyroid-stimulating hormone level Optic atrophy Depressed nasal bridge Abnormal facial shape Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Abnormal spermatogenesis Sparse eyebrow Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Flat occiput Unilateral chest hypoplasia


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