Cognitive impairment, and Nail dystrophy

Diseases related with Cognitive impairment and Nail dystrophy

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


Top 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 REVESZ SYNDROME


Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

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

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Other less relevant matches:

Low match COATS PLUS SYNDROME


Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Low match TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1


Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Low match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Low 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

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6


Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Top 5 symptoms//phenotypes associated to Cognitive impairment and Nail dystrophy

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Sparse hair Common - Between 50% and 80% cases
Hyperkeratosis Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Nail dysplasia Global developmental delay Intrauterine growth retardation Strabismus Hyperhidrosis Scoliosis Nystagmus Fine hair Oral leukoplakia Cataract Erythema Palmoplantar keratoderma Seizures Carious teeth Microphthalmia Ichthyosis Abnormality of the nail Microcephaly Bone marrow hypocellularity Telangiectasia Photophobia Finger syndactyly Hypotrichosis Umbilical hernia Ectodermal dysplasia Abnormality of dental enamel Brittle hair Abnormality of skin pigmentation Fragile nails Corneal opacity Camptodactyly of finger Ridged fingernail Abnormality of the dentition Ataxia Abnormality of the hair Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases


Inguinal hernia Oligodactyly Cerebral cortical atrophy Parakeratosis Congestive heart failure Muscular hypotonia Abnormality of hair texture Woolly hair Alopecia of scalp Congenital ichthyosiform erythroderma Intestinal obstruction Dry skin Erythroderma Eczema Mixed hearing impairment Recurrent infections Low-set ears Flexion contracture Neoplasm Pruritus Oligodontia Reduced number of teeth Thin skin Small for gestational age Ectrodactyly Multicystic kidney dysplasia Absent eyebrow Hydronephrosis Agenesis of corpus callosum Polydactyly Cryptorchidism Cleft palate Failure to thrive Hearing impairment Blindness Verrucae Hypoplastic fingernail Uveitis Telangiectasia of the skin Camptodactyly Hernia Scarring Papule Postaxial hand polydactyly Supernumerary nipple Keratitis Abnormality of dental morphology Spina bifida occulta Omphalocele Hypodontia Delayed eruption of teeth Hypoplasia of dental enamel Mental deterioration Dilatation Skin ulcer Exudative retinopathy Cerebral calcification Abnormal blistering of the skin Hyperpigmentation of the skin Conjunctivitis Retinopathy Hypertonia Alopecia totalis Anemia Abnormality of nail color Abnormality of the fingernails Thick nail Spasticity Abnormal nasolacrimal system morphology Blepharitis Hand polydactyly Scaling skin Small nail Irregular hyperpigmentation Optic atrophy Open bite Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Overgrowth Abnormality of the skin Dental malocclusion Short metacarpal Mild short stature Stridor Chorioretinal coloboma Renal hypoplasia Anophthalmia Broad nasal tip Iris coloboma Cleft upper lip Intestinal malrotation Subcutaneous nodule Split hand Ectopia lentis Dermal atrophy Hepatomegaly Recurrent skin infections Short metatarsal Arnold-Chiari malformation Respiratory insufficiency Renal hypoplasia/aplasia Horseshoe kidney Ectropion Congenital hip dislocation Pointed chin Facial asymmetry Short ribs Hoarse voice Spina bifida Short phalanx of finger Abnormality of epiphysis morphology Increased body weight Tremor Abnormality of the foot 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 Micrognathia Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Olivopontocerebellar atrophy Recurrent corneal erosions Heat intolerance Unilateral chest hypoplasia Ptosis Toe syndactyly Abdominal pain Microtia Abnormal cardiac septum morphology Coloboma Abnormality of the pinna Cleft lip Joint laxity Gastroesophageal reflux Reduced visual acuity Weight loss Abnormal heart morphology Brachydactyly Patent ductus arteriosus Clinodactyly Obesity Abnormality of cardiovascular system morphology Syndactyly Hydrocephalus Ventricular septal defect Abnormality of the skeletal system Dysphagia Cough Vertebral fusion Hypermelanotic macule Cholesteatoma Tachycardia Dilated cardiomyopathy Arrhythmia Cardiomyopathy Pain Midclavicular aplasia Midclavicular hypoplasia Giant cell tumor of bone Apocrine hidrocystoma Linear hyperpigmentation Sudden cardiac death Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Nonproductive cough Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Chest pain Syncope Absence of the sacrum Right ventricular cardiomyopathy Intellectual disability, profound Pancytopenia Constipation Absent speech Midface retrusion Agenesis of molar Gingival recession Reduced systolic function Selective tooth agenesis Leukonychia Cardiomegaly Myocardial fibrosis Abnormal EKG Agenesis of permanent teeth Hypokinesia Aplasia/Hypoplasia of the eyebrow Right bundle branch block Bundle branch block Loss of consciousness Ventricular tachycardia Palpitations Caudal appendage Patchy alopecia Short finger Aniridia Diastasis recti Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Short clavicles Duodenal atresia Facial cleft Aplasia cutis congenita Hypoplastic nipples Anteriorly placed anus Abnormality of digit Aplasia/Hypoplasia of the skin Narrow nasal bridge Corneal erosion Colitis Macule Acute hepatic failure Hypoplastic pelvis Upper limb asymmetry Total anomalous pulmonary venous return Reticular hyperpigmentation Absent fingernail Foot oligodactyly Abnormality of the middle ear Rough bone trabeculation Absent toenail Clitoral hypoplasia Inspiratory stridor Papilloma Abnormal cornea morphology Lower limb asymmetry Hand oligodactyly Ureteral duplication Bifid nose Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Abnormality of the larynx Ulcerative colitis Follicular hyperkeratosis Absent septum pellucidum Abnormal eyelid morphology Macular degeneration Freckling Decreased fertility Basal cell carcinoma Spastic diplegia Squamous cell carcinoma Slow-growing hair Abnormality of the thorax Dysphonia Increased bone mineral density Keratoconjunctivitis sicca Chronic diarrhea Abnormality of the face Cutaneous photosensitivity Decreased antibody level in blood Asthma Microcornea Hypohidrotic ectodermal dysplasia Malabsorption Protruding ear Craniofacial hyperostosis Hyperactive deep tendon reflexes Hypogonadism Tiger tail banding Skin rash Clubbing Generalized hyperpigmentation Fair hair Gait disturbance Visual impairment Sparse axillary hair Lack of subcutaneous fatty tissue Jerky ocular pursuit movements Onycholysis Clubbing of fingers Titubation Trichorrhexis nodosa Corneal neovascularization Congenital nonbullous ichthyosiform erythroderma Pili torti Sparse pubic hair Progeroid facial appearance IgG deficiency Retrognathia Pneumonia Oral cleft Cirrhosis Leukoencephalopathy Leukodystrophy Hypertension Hemiparesis Abnormality of extrapyramidal motor function Febrile seizures Gastrointestinal hemorrhage Recurrent fractures Abnormality of movement Hemiplegia Genu valgum Abnormality of the cerebral white matter Dysarthria Abnormal pyramidal sign Abnormality of the liver Postnatal growth retardation Osteopenia Osteoporosis Thrombocytopenia Increased susceptibility to fractures Portal hypertension Babinski sign Spastic hemiparesis Areflexia Hyperconvex nail Clubbing of toes Delayed speech and language development Absent axillary hair Hidrotic ectodermal dysplasia Palmar hyperkeratosis Absent pubic hair Decreased pulmonary function Retinal telangiectasia Short femoral neck Retinal exudate Metaphyseal sclerosis Intestinal bleeding Morphological abnormality of the pyramidal tract Esophageal varix Calcinosis Hematochezia Abnormality of the vasculature Pathologic fracture Attention deficit hyperactivity disorder Retinal detachment Absent eyelashes Postaxial polydactyly Aganglionic megacolon Skin plaque Choanal atresia Epidermal acanthosis Abnormality of the ribs Oligohydramnios Specific learning disability Brain atrophy Pulmonary hypoplasia Epidermoid cyst Astigmatism Talipes Platyspondyly Steatocystoma multiplex Hip dislocation Respiratory tract infection Developmental regression Abnormality of the kidney Abnormality of metabolism/homeostasis Renal dysplasia Hypohidrosis Dementia Hydroureter Abnormal eyelash morphology Corneal dystrophy Submucous cleft hard palate Laryngomalacia Anonychia Atonic seizures Abnormality of the vertebral column Dystonia Natal tooth Hamartoma Abnormal vertebral morphology Bifid scrotum Unilateral renal agenesis Psoriasiform dermatitis Urticaria Abnormality of the hand Plagiocephaly Opacification of the corneal stroma Recurrent bacterial infections Hemivertebrae Macrotia Severe short stature Palmoplantar hyperkeratosis Fine, reticulate skin pigmentation Deviation of finger Cerebral ischemia Leukocoria Reticulated skin pigmentation Dystrophic toenail Abnormal toenail morphology Hearing abnormality Abnormality of immune system physiology Hemiplegia/hemiparesis Asymmetric growth Sparse scalp hair Sparse and thin eyebrow Encephalitis Eosinophilia Hypopigmented skin patches Osteolysis Blue sclerae Pulmonary arterial hypertension Sparse eyelashes Supernumerary ribs Retinal hemorrhage Recurrent respiratory infections Frontal bossing Delayed skeletal maturation Progressive neurologic deterioration Broad-based gait Immunodeficiency Kyphosis Intellectual disability, severe Hypoplasia of the corpus callosum Respiratory distress Ventriculomegaly Myopia Absent hand Feeding difficulties Purpura Megalocornea Aplastic anemia Nail pits Retinal vascular proliferation Broad nail Abnormal hand morphology Abnormal chorioretinal morphology CNS hypomyelination



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