Cognitive impairment, and Small nail

Diseases related with Cognitive impairment and Small nail

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


Top matches:

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

Low match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY 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

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 TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4


Trichothiodystrophy 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 (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome|pollitt syndrome|abhs|trichothiodystrophy, nonphotosensitive 1|bids syndrome|ttdn1|amish brittle hair brain syndrome|hair-brain syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

Low match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

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 ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match PHELAN-MCDERMID SYNDROME; PHMDS


Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Small nail

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Sparse hair Microphthalmia Strabismus Cataract Nail dysplasia Abnormality of the dentition Muscular hypotonia Seizures Ventricular septal defect Hyperhidrosis Growth delay Ectodermal dysplasia Sparse eyelashes Brittle hair Abnormality of the nail Nystagmus Abnormality of the kidney Generalized hypotonia Macrotia Cerebral cortical atrophy Epicanthus Ventriculomegaly Ichthyosis Photophobia Finger syndactyly Nail dystrophy Scoliosis Hypoplastic fingernail Agenesis of corpus callosum Hypoplastic toenails Umbilical hernia Hypotrichosis Palmoplantar keratoderma Recurrent infections Heat intolerance Abnormality of the hair

Rare Symptoms - Less than 30% cases


Renal dysplasia Pain Absent hand Brachydactyly Trichorrhexis nodosa Macrocephaly Frontal bossing Abnormality of the skeletal system Hydrocephalus Tiger tail banding Keratoconjunctivitis sicca Corneal neovascularization Woolly hair Malar flattening Decreased fertility Macular degeneration Microcornea Dry skin Retrognathia Eczema Hypohidrosis Chronic diarrhea Telangiectasia Intestinal obstruction Kyphosis Abnormality of dental morphology Midface retrusion Abnormality of the face Corneal opacity Pulmonary arterial hypertension Abnormality of the vertebral column Camptodactyly of finger Osteolysis Abnormality of the fingernails Erythema Abnormality of dental enamel Gait disturbance Increased bone mineral density Flexion contracture Abnormal vertebral morphology Blue sclerae Multicystic kidney dysplasia Keratitis Supernumerary nipple Hypodontia Delayed speech and language development Alopecia of scalp Congenital ichthyosiform erythroderma Syndactyly Protruding ear Delayed eruption of teeth Short distal phalanx of finger Uveitis Hydronephrosis Abnormality of the thorax Oligodactyly Hypogonadism Immunodeficiency Prominent forehead Scaling skin Hearing impairment Conjunctivitis Skin ulcer Talipes Fine hair Carious teeth Failure to thrive Craniosynostosis Micrognathia Blepharitis Palmar hyperkeratosis Hypoplasia of teeth Ridged nail Pili torti Cutaneous finger syndactyly Absent eyebrow Sparse and thin eyebrow Hypoplasia of dental enamel Sparse scalp hair Epidermal acanthosis Irregular hyperpigmentation Erythroderma Fragile nails Hypoplasia of the corpus callosum Alopecia totalis Abnormal nasolacrimal system morphology Patent ductus arteriosus Atrial septal defect Cerebellar hypoplasia Dilatation Intrauterine growth retardation Feeding difficulties Cleft palate EEG abnormality Congenital hepatic fibrosis Sleep disturbance Absent speech Pulmonary artery atresia Porencephalic cyst High, narrow palate Esophageal varix Thick vermilion border Bulbous nose Full cheeks Thick eyebrow Abnormality of the upper limb Renal cyst Headache Vesicoureteral reflux Double outlet right ventricle Tall stature Long philtrum Intellectual disability, mild Nephrolithiasis Long eyelashes Pulmonary artery stenosis Calvarial skull defect Dental malocclusion Arteriovenous malformation Abnormality of the genital system Abnormality of the lower limb Behavioral abnormality Broad-based gait Hepatitis Hepatic failure Facial asymmetry Unsteady gait Deeply set eye Aggressive behavior Vomiting Hyporeflexia Wide nasal bridge Anxiety Neonatal hypotonia Aplasia cutis congenita on trunk or limbs Gastroesophageal reflux Acrania Autism Hyperactivity Motor delay Ptosis Constipation High palate Clinodactyly of the 5th finger Aplasia cutis congenita over posterior parietal area Intellectual disability, moderate Periventricular leukomalacia Dolichocephaly Aplasia cutis congenita of scalp Nausea and vomiting Hypermetropia Chylothorax Obesity Aplastic/hypoplastic toenail Diarrhea Absent fingernail Imperforate hymen Venous malformation Abnormal pulmonary valve morphology Autistic behavior Abnormality of the pinna Cutis marmorata telangiectatica congenita Periventricular cysts Irritability Absent toe Hair-pulling Dental crowding Opacification of the corneal stroma Atonic seizures Absent septum pellucidum Mixed hearing impairment Hydroureter Bifid scrotum Unilateral renal agenesis Psoriasiform dermatitis Urticaria Abnormality of the hand Plagiocephaly Recurrent bacterial infections Submucous cleft hard palate Hemivertebrae Aganglionic megacolon Omphalocele Choanal atresia Abnormality of the ribs Oligohydramnios Postaxial hand polydactyly Specific learning disability Brain atrophy Postaxial polydactyly Ectrodactyly Parakeratosis Astigmatism Subcortical cerebral atrophy Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Corneal scarring Abnormal eyelash morphology Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Olivopontocerebellar atrophy Recurrent corneal erosions Follicular hyperkeratosis Corneal erosion Abnormal eyelid morphology Absent eyelashes Pulmonary hypoplasia Platyspondyly Lymphedema Polycystic kidney dysplasia Bruxism Arachnoid cyst Abnormality of the periventricular white matter Palpebral edema Impaired pain sensation Poor eye contact Weak cry Cellulitis 2-3 toe syndactyly Large hands Prominent supraorbital ridges Delayed CNS myelination Recurrent upper respiratory tract infections Recurrent skin infections Poor head control Increased intracranial pressure Abnormality of the outer ear Sacral dimple Accelerated skeletal maturation Short chin Pointed chin Cerebral visual impairment Concave nasal ridge Periorbital fullness Papule Delayed skeletal maturation Hip dislocation Scarring Respiratory tract infection Developmental regression Camptodactyly Mental deterioration Polydactyly Dementia Severe short stature Recurrent respiratory infections Inguinal hernia Episodic vomiting Hernia Intellectual disability, severe Respiratory distress Myopia Cryptorchidism Recurrent pyelonephritis Fulminant hepatic failure Tongue thrusting Hyperorality Cerebellar cortical atrophy Toenail dysplasia Central hypotonia Abnormality of immune system physiology Aplasia cutis congenita High forehead Hypoplasia of the maxilla Postural instability Recurrent fractures Narrow chest Hyperlordosis Apnea Hepatosplenomegaly Skeletal dysplasia Proptosis Growth hormone deficiency Brachycephaly Osteoporosis Splenomegaly Hepatomegaly Anemia Concave nail Partial agenesis of the corpus callosum Severe muscular hypotonia Hypergonadotropic hypogonadism Prominent nose Abnormality of the skin Anteverted nares Agenesis of permanent teeth Persistence of primary teeth Abnormal pattern of respiration Low back pain Small face Spondylolisthesis Osteolytic defects of the phalanges of the hand Osteopetrosis Abnormality of the clavicle Prominent occiput Abnormality of epiphysis morphology Osteomyelitis Back pain Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Sleep apnea Narrow palate Wormian bones Short toe Bone pain Short nose Optic atrophy Delayed eruption of primary teeth Low-set ears Sparse eyebrow Trigonocephaly Cerebellar vermis hypoplasia Dandy-Walker malformation Hematuria Proteinuria Downslanted palpebral fissures Depressed nasal bridge Hypertelorism Scaphocephaly 2-3 toe cutaneous syndactyly Epidermal hyperkeratosis Absent facial hair Patchy alopecia Conical tooth Aplasia/Hypoplasia of the eyebrow Coarse hair Widely spaced teeth Cutaneous syndactyly Nephritis Tubulointerstitial nephritis Ataxia Thick nail Abnormality of nail color Absent pubic hair Hidrotic ectodermal dysplasia Absent axillary hair Clubbing of toes Hyperconvex nail Hypohidrotic ectodermal dysplasia Slow-growing hair Craniofacial hyperostosis Onycholysis Posterior fossa cyst Sparse pubic hair Clubbing of fingers Sparse axillary hair Fair hair Generalized hyperpigmentation Clubbing Hand polydactyly Palmoplantar hyperkeratosis Hyperpigmentation of the skin Delayed eruption of permanent teeth Absent frontal sinuses Aplasia/Hypoplasia of the skin Hypertonia Pulmonic stenosis Leukemia Prominent nasal bridge Abnormal cardiac septum morphology Osteopenia Abnormal heart morphology Thrombocytopenia Abnormality of cardiovascular system morphology Talipes equinovarus Cleft upper lip Hypertension Retinal vascular proliferation Broad nail Abnormal hand morphology Ridged fingernail Abnormal chorioretinal morphology Retinal hemorrhage Asymmetric growth Supernumerary ribs Toe syndactyly Cirrhosis Cerebral ischemia Aortic valve stenosis Cortical dysplasia Hypoplastic left heart Cutis marmorata Portal hypertension Abnormality of the metacarpal bones Bicuspid aortic valve Leukopenia Meningitis Pachygyria Polymicrogyria Encephalocele Split hand Hemiparesis Coarctation of aorta Tetralogy of Fallot Esotropia Gastrointestinal hemorrhage Premature birth Ascites Deviation of finger Verrucae Snoring Asthma Hyperactive deep tendon reflexes Freckling Basal cell carcinoma Spastic diplegia Squamous cell carcinoma Dysphonia Cutaneous photosensitivity Decreased antibody level in blood Malabsorption Progeroid facial appearance Small for gestational age Pneumonia Babinski sign Areflexia Neoplasm Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis IgG deficiency Congenital nonbullous ichthyosiform erythroderma Dystrophic toenail Retinal detachment Abnormal toenail morphology Hearing abnormality Telangiectasia of the skin Hemiplegia/hemiparesis Encephalitis Eosinophilia Hypopigmented skin patches Spina bifida occulta Abnormal blistering of the skin Abnormality of skin pigmentation Titubation Oral cleft Attention deficit hyperactivity disorder Skin rash Congestive heart failure Visual impairment Spasticity Lack of subcutaneous fatty tissue Jerky ocular pursuit movements Abnormality of hair texture Unilateral chest hypoplasia



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