Cognitive impairment, and Alopecia

Diseases related with Cognitive impairment and Alopecia

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


Top matches:

Low match CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2; CADASIL2


Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 is a disorder of the small arterial vessels of the brain characterized by stroke, transient ischemic attacks (TIA), cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities and sometimes associated with multiple lacunar infarcts and microbleeds. Dilated perivascular spaces with a typical status cribrosum characterized by innumerable dilated Virchow-Robin spaces and resulting in a cribriform change in basal ganglia occur in most patients. CADASIL2 differs from CADASIL1 (OMIM ) by a later age of onset (Verdura et al., 2015).

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Gait disturbance
  • Headache
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2; CADASIL2

Low 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

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

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Other less relevant matches:

Low match PACHYONYCHIA CONGENITA


Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

PACHYONYCHIA CONGENITA Is also known as pc

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Hepatomegaly
  • Respiratory insufficiency
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about PACHYONYCHIA CONGENITA

Low match KERATODERMA HEREDITARIUM MUTILANS


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

Low match ANE SYNDROME


ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

ANE SYNDROME Is also known as ane syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ANE SYNDROME

Low match ARGININOSUCCINIC ACIDURIA


Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

ARGININOSUCCINIC ACIDURIA Is also known as argininosuccinic acid lyase deficiency|asa deficiency|argininosuccinase deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|asl deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ARGININOSUCCINIC ACIDURIA

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

Low match LIPOID PROTEINOSIS


Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

Low match CARASIL


CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARASIL

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

Symptoms // Phenotype % cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Hypotrichosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Palmoplantar keratoderma Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Carious teeth Patchy alopecia Brittle hair Abnormality of the nail Abnormality of the dentition Cataract Seizures Short stature

Rare Symptoms - Less than 30% cases


Palmoplantar hyperkeratosis Palmar hyperkeratosis Hepatomegaly Nail dystrophy Sparse hair Scarring Encephalopathy Hypertension Ataxia Abnormal blistering of the skin Ichthyosis Thick nail Abnormality of nail color Dysphagia Papule Hyperpigmentation of the skin Thickened skin Abnormality of the hair Memory impairment Sparse eyelashes Microcephaly Sparse and thin eyebrow Small nail Fine hair Leukoencephalopathy Stroke Dementia Slow-growing hair Ectodermal dysplasia Mental deterioration Sparse scalp hair Gait disturbance Finger syndactyly Dystonia Hyperconvex nail Clubbing of toes Absent axillary hair Hidrotic ectodermal dysplasia Absent pubic hair High palate Diffuse leukoencephalopathy Respiratory distress Absent speech Abnormal nasolacrimal system morphology Pseudobulbar signs Recurrent respiratory infections Carcinoma Abnormality of the nervous system Aggressive behavior Respiratory tract infection Knee pain Cerebral calcification Thick lower lip vermilion Hypohidrotic ectodermal dysplasia Alopecia totalis Protein avoidance Photophobia Skin ulcer Conjunctivitis Hand polydactyly Scaling skin Clubbing Generalized hyperpigmentation Irregular hyperpigmentation Blepharitis Fragile nails Diffuse demyelination of the cerebral white matter Nail dysplasia Strabismus Fair hair Episodic ammonia intoxication Sparse axillary hair Clubbing of fingers Sparse pubic hair Subcutaneous nodule Onycholysis Craniofacial hyperostosis Hyperglutaminemia Diffuse white matter abnormalities Oligodontia Hallucinations Unsteady gait Babinski sign Osteoporosis Rigidity Abnormal pyramidal sign Stroke-like episode Progressive encephalopathy Abnormality of the cerebral white matter Gaze-evoked nystagmus Ophthalmoplegia Dysmetria Neurodegeneration Hyperreflexia Urinary incontinence Peripheral demyelination Abnormality of extrapyramidal motor function Tetraparesis Hemiparesis Diplopia Spastic gait Slurred speech Back pain Apathy Emotional lability Dysarthria Delayed speech and language development Hoarse voice Nasal polyposis Urinary urgency Oral-pharyngeal dysphagia Acne Fragile skin Alopecia of scalp Pustule Delusions Microglossia Pseudobulbar paralysis Verrucae Abnormal oral mucosa morphology Spastic ataxia Paranoia Arteriosclerosis Abnormality of the gingiva Hoarse cry Tongue nodules Respiratory alkalosis Bilateral intracranial calcifications Nystagmus Low back pain Pain Spasticity Hypoargininemia Irritability Oroticaciduria Skin plaque 2-3 toe cutaneous syndactyly Respiratory insufficiency Abnormality of the fingernails Corneal dystrophy Laryngomalacia Anonychia Natal tooth Hamartoma Oral leukoplakia Epidermoid cyst Steatocystoma multiplex Absent facial hair Hearing impairment Sensorineural hearing impairment Cleft palate Cleft lip Facial asymmetry Hypogonadotrophic hypogonadism Osteolysis Mutism Self-injurious behavior Abnormal toenail morphology Epidermal hyperkeratosis Hypoplasia of teeth Amniotic constriction ring Syndactyly Headache Transient ischemic attack Hyperintensity of cerebral white matter on MRI Perivascular spaces Recurrent subcortical infarcts Status cribrosum Schizophrenia Abnormal eyelash morphology Abnormal eyebrow morphology Follicular hyperkeratosis Epidermal acanthosis Ridged nail Hypoplasia of dental enamel Cutaneous syndactyly Widely spaced teeth Coarse hair Hypoplastic toenails Absent eyebrow Aplasia/Hypoplasia of the eyebrow Cutaneous finger syndactyly Heat intolerance Conical tooth Pili torti Xanthomatosis Leukonychia Abnormal hair quantity Febrile seizures Vomiting Hyperactivity EEG abnormality Feeding difficulties in infancy Abnormality of the liver Attention deficit hyperactivity disorder Lethargy Cirrhosis Coma Aciduria Decreased liver function Failure to thrive Hepatic fibrosis Aminoaciduria Intellectual disability, progressive Tachypnea Hyperammonemia Hyperventilation Increased reactive oxygen species production Alkalosis Cerebral edema Dry hair Trichorrhexis nodosa Edema Global developmental delay Plantar hyperkeratosis Kyphoscoliosis Abnormality of the spinal cord Autoamputation of digits Ainhum Epidermal thickening Honeycomb palmoplantar keratoderma Flexion contracture Skeletal muscle atrophy Intellectual disability, severe Hypogonadism Hypothyroidism Delayed puberty Compensated hypothyroidism Hypodontia Gynecomastia Melanocytic nevus Adrenal insufficiency Reduced subcutaneous adipose tissue Motor deterioration Upper motor neuron dysfunction Adrenocorticotropic hormone deficiency Ulnar deviation of the hand Central adrenal insufficiency Ulnar deviation of the hand or of fingers of the hand Arteriosclerosis of small cerebral arteries



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