Peripheral neuropathy, and Small nail

Diseases related with Peripheral neuropathy and Small nail

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


Top matches:

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Low match MONOSOMY 22Q13


Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Low match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

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Other less relevant matches:

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 COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Low match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Low match NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME


Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY


Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy|md-ebs|ebs-md|mdebs|limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis
  • Anemia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

Low match VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Low match NAIL-PATELLA SYNDROME; NPS


NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Small nail

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Nail dysplasia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Small nail. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Sensorineural hearing impairment Ptosis Delayed speech and language development Epicanthus Dental malocclusion Generalized hypotonia Microcephaly Nail dystrophy Global developmental delay Cataract Pain Short stature Muscular hypotonia Neonatal hypotonia Myopathy Strabismus Feeding difficulties Abnormality of the skeletal system Wide nasal bridge Clinodactyly of the 5th finger Macrotia Umbilical hernia Hydronephrosis High palate Bulbous nose Thick eyebrow Vesicoureteral reflux Growth delay Renal dysplasia Anonychia Anteverted nares Hypertelorism Large hands Gait disturbance Diarrhea Vomiting Muscle weakness Hypoplastic toenails Lymphedema

Rare Symptoms - Less than 30% cases


Protruding ear Ophthalmoplegia Pneumonia Everted lower lip vermilion Short distal phalanx of finger Wide mouth Coarse facial features Hypertension Long philtrum Optic atrophy Severe sensorineural hearing impairment Brachydactyly Alopecia Abdominal pain Weight loss Paresthesia Recurrent pyelonephritis Hair-pulling Cerebellar cortical atrophy Bruxism Arachnoid cyst Edema Cognitive impairment Neoplasm Kyphosis Cleft palate Fatigue Scoliosis Prominent supraorbital ridges Skeletal muscle atrophy Increased intracranial pressure Frontal bossing Anemia Recurrent urinary tract infections Cardiomyopathy Pectus excavatum Impaired pain sensation Thick vermilion border Facial asymmetry Mandibular prognathia Pes planus Hyperlordosis Constipation Midface retrusion Dilated cardiomyopathy Intellectual disability, mild Joint hypermobility Ventriculomegaly Palpebral edema Hyporeflexia Nausea and vomiting Carious teeth Abnormality of the fingernails Autistic behavior Deeply set eye Agenesis of corpus callosum Dolichocephaly Recurrent skin infections Hypoalbuminemia Hypermetropia Hyperactivity Gastroesophageal reflux Overgrowth Obesity Hypoplastic fingernail Immunodeficiency Facial palsy Hyperconvex fingernails Sacral dimple Accelerated skeletal maturation Pointed chin Hypohidrosis Dental crowding Long eyelashes Colon cancer Sleep disturbance Tapered finger Malar flattening Lumbar kyphosis Full cheeks Failure to thrive Cutaneous finger syndactyly Fatigable weakness Cyanosis Aplasia/Hypoplasia of the skin Sclerotic vertebral endplates Skin vesicle Milia Lipoma Dysphasia Aphasia Short finger Oculomotor nerve palsy Severe postnatal growth retardation Abnormality of the nasal alae Micrognathia Punctate keratitis Uterine prolapse Lester's sign Decreased miniature endplate potentials Bifid sternum Urethral stricture Thick nasal septum Muscle flaccidity Hyperostosis Drumstick terminal phalanges Syndactyly Scarring alopecia of scalp Gait ataxia Increased connective tissue Echolalia Nemaline bodies Tetraparesis Keratitis Ventricular tachycardia Neonatal respiratory distress Adrenocorticotropic hormone deficiency Hypothalamic luteinizing hormone-releasing hormone deficiency Pituitary dwarfism Thoracolumbar kyphoscoliosis Abnormal anterior horn cell morphology Prolactin deficiency Anterior pituitary hypoplasia Gonadotropin deficiency Panhypopituitarism Elevated serum creatine phosphokinase Jaundice Pituitary hypothyroidism Thoracic kyphosis Hypopituitarism Growth hormone deficiency Hyperextensible skin Increased body weight Skeletal dysplasia Scarring Short neck Left ventricular hypertrophy Ophthalmoparesis Abnormality of mitochondrial metabolism Dermal atrophy Palmoplantar hyperkeratosis Mutism Abnormality of dental enamel Progressive muscle weakness Hypoplasia of dental enamel Muscular dystrophy Ventricular hypertrophy Abnormal blistering of the skin Severe short stature Tachycardia Micropenis Hypotrichosis Papule Cryptorchidism Cervical ribs Fever Spina bifida Disproportionate prominence of the femoral medial condyle Triceps aplasia Elongated radius Nephritis Absence of pectoralis minor muscle Glomerulonephritis Pterygium Abnormality of the urinary system Aortic regurgitation Lumbar hyperlordosis Stellate iris Nephrotic syndrome Microcornea Nephropathy Hematuria Oral cleft Cleft upper lip Confusion Talipes Arthrogryposis multiplex congenita Abnormality of the kidney Quadriceps aplasia Thickening of the lateral border of the scapula Proteinuria Renal cell carcinoma Aplasia/Hypoplasia of the patella Patellar hypoplasia Concave nail Ridged nail Patellar aplasia Tubulointerstitial nephritis Raynaud phenomenon Blue irides Abnormality of the elbow Patellar dislocation Keratoconus Hypoplastic radial head Limited elbow extension Congenital nephrotic syndrome Albuminuria Absent distal interphalangeal creases Antecubital pterygium Deep-set nails Microphakia Hypoplasia of first ribs Glenoid fossa hypoplasia Iliac horns Cleft lip Glaucoma Dysphagia Round face Malnutrition Intestinal obstruction Portal hypertension External ophthalmoplegia Pancreatitis Horseshoe kidney Aganglionic megacolon Interphalangeal joint contracture of finger Intestinal malrotation Abdominal distention Disproportionate tall stature Arachnodactyly Narrow chest Broad forehead Prominent nasal bridge Abnormality of the liver Joint stiffness Low-set, posteriorly rotated ears Polyhydramnios Abnormality of cardiovascular system morphology Dilatation Hydroureter Microalbuminuria Osteoporosis Prune belly Renal insufficiency Talipes equinovarus Megaduodenum Hypoperistalsis Gastrointestinal obstruction Neuroma Barrett esophagus Pseudoepiphyses of the metacarpals Urethral obstruction Megacystis Microcolon Hyperparathyroidism Pollakisuria Urinary retention Intestinal pseudo-obstruction Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Volvulus Achalasia Chronic constipation Episodic abdominal pain Retinoschisis Hypoplasia of the maxilla Stooped posture Cystic renal dysplasia Headache Behavioral abnormality Abnormality of the dentition Atrial septal defect Ventricular septal defect Motor delay Profound sensorineural hearing impairment Prominent nasal tip Hypoplasia of the iris Absent speech Infantile spasms Triphalangeal thumb Abnormal dermatoglyphics Short phalanx of finger Hypsarrhythmia High myopia Bilateral sensorineural hearing impairment Dandy-Walker malformation Renal agenesis Recurrent infections Patent ductus arteriosus Prominent nose Hepatitis Abnormality of the outer ear Short chin Multicystic kidney dysplasia Cerebral visual impairment Tall stature Chronic diarrhea Nephrolithiasis Abnormality of the genital system Broad-based gait Renal cyst Autism High, narrow palate Hepatic failure Unsteady gait Abnormality of the pinna Irritability Intellectual disability, moderate Aggressive behavior Anxiety EEG abnormality Abnormality of the skin Polyneuropathy Recurrent upper respiratory tract infections Hypokalemia Hypomagnesemia Abnormality of the vasculature Xerostomia Thromboembolism Generalized hyperpigmentation Sparse body hair Aplasia/Hypoplasia of the eyebrow Clubbing Cachexia Dystrophic toenail Abnormal intestine morphology Hypocalcemia Hyperpigmentation of the skin Anorexia Abnormality of skin pigmentation Malabsorption Autoimmunity Splenomegaly Hepatomegaly Hematochezia Clubbing of fingers Downturned corners of mouth Low-set ears Respiratory tract infection Abnormality of the nervous system High forehead Recurrent respiratory infections Abnormal heart morphology Cerebral atrophy Blindness Respiratory distress Myopia Decreased taste sensation Furrowed tongue Gastrointestinal carcinoma Glossitis Patchy alopecia Peripheral edema Hamartomatous polyposis Stomach cancer Protein-losing enteropathy Intestinal polyposis Dystrophic fingernails Poor head control Polycystic kidney dysplasia Cataplexy Redundant skin Broad hallux Loss of consciousness Emphysema Abnormality of neuronal migration Cutis marmorata Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Self-injurious behavior Coarse hair Abnormality of digit Schizophrenia Sleep apnea Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Cutis laxa Narrow palate Coxa valga Abnormality of the hair Wide anterior fontanel Progressive spasticity Broad palm Decreased body weight Myelopathy Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Thick nasal alae Abnormal diaphysis morphology Premature loss of primary teeth Rectal prolapse Hyperextensibility of the finger joints Advanced eruption of teeth Abnormal aortic valve morphology Thickened calvaria Delayed closure of the anterior fontanelle Craniofacial hyperostosis Abnormal mitral valve morphology Restrictive cardiomyopathy Acrocyanosis Soft skin Spinal canal stenosis Anteriorly placed anus Atonic seizures Abnormality of retinal pigmentation Mitral regurgitation 2-3 toe syndactyly Hyperorality Intellectual disability, severe Hydrocephalus Hypoplasia of the corpus callosum Downslanted palpebral fissures Depressed nasal bridge Abnormal facial shape Fulminant hepatic failure Tongue thrusting Toenail dysplasia Hypertonia Episodic vomiting Periorbital fullness Delayed CNS myelination Concave nasal ridge Heat intolerance Abnormality of the periventricular white matter Poor eye contact Weak cry Cellulitis Congestive heart failure Inguinal hernia Abnormal form of the vertebral bodies Highly arched eyebrow Open mouth Thick lower lip vermilion Cerebellar vermis hypoplasia Psychosis Short metacarpal Tetraplegia Hypodontia Delayed eruption of teeth Single transverse palmar crease Wide nose Delayed skeletal maturation Joint hyperflexibility Severe global developmental delay Neurological speech impairment Pectus carinatum Feeding difficulties in infancy Mental deterioration Telecanthus Kyphoscoliosis Cerebral cortical atrophy Biceps aplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Encephalitis, related diseases and genetic alterations Wide nasal bridge and Short nose, related diseases and genetic alterations High palate and Hypospadias, related diseases and genetic alterations Pain and Nephropathy, related diseases and genetic alterations

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