Dysarthria, and Nail dysplasia

Diseases related with Dysarthria and Nail dysplasia

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

Top matches:

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

Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Other less relevant matches:

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30|mental retardation, x-linked, syndromic 30|x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|olms|olmsted syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES

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

Top 5 symptoms//phenotypes associated to Dysarthria and Nail dysplasia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Sparse hair Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Macrotia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Nail dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypotrichosis Carious teeth Nail dystrophy Hyperhidrosis Global developmental delay Hypogonadism Microdontia Abnormality of the dentition Depressed nasal bridge Short stature Downslanted palpebral fissures Growth delay Abnormality of dental enamel Recurrent respiratory infections Alopecia Delayed skeletal maturation Scoliosis Ectodermal dysplasia Hypodontia Sparse lateral eyebrow Hyperlordosis Protruding ear Long philtrum Pain Sparse scalp hair Wide intermamillary distance Malar flattening Concave nail Thin nail Macrocephaly Midface retrusion Synophrys Joint laxity Hoarse voice Anhidrosis Pili torti Anodontia Palmoplantar hyperkeratosis Sparse eyelashes Sparse and thin eyebrow Hypohidrosis Generalized hypotonia Cutis laxa Strabismus Hypertension Osteoporosis Osteopenia

Rare Symptoms - Less than 30% cases

Aplasia/Hypoplasia of the eyebrow Large earlobe Broad face Broad philtrum Cutaneous finger syndactyly Abnormality of the ear Oral leukoplakia Abnormality of dental morphology Dystrophic toenail Brittle hair Scrotal hypoplasia Deep-set nails Bilateral single transverse palmar creases Highly arched eyebrow Oral cleft Bilateral cleft lip and palate Postnatal growth retardation Dystrophic fingernails Abnormal oral mucosa morphology Epicanthus Talipes equinovarus Hernia Inguinal hernia Pes cavus Prominent forehead Leukemia Cleft upper lip Overgrowth Lymphedema Pointed chin Large for gestational age Progressive hypotrichosis Abnormality of the philtrum Cutaneous syndactyly of toes Ptosis Neurological speech impairment Toe syndactyly Epidermal acanthosis Wide mouth Anemia Spasticity Tachycardia Thick vermilion border Eczema Hypoplasia of dental enamel Carcinoma Ataxia Short chin Abnormality of the fingernails Abnormal dermatoglyphics Curly hair Soft skin Severe postnatal growth retardation Dry skin Hyperkeratosis Flexion contracture Wide nasal bridge Feeding difficulties Finger syndactyly Cleft lip Frontal bossing EEG abnormality Syndactyly Cleft palate Severe short stature Short neck Cardiomyopathy Myopathy Short nose Echolalia Absent speech Prominent supraorbital ridges Delayed speech and language development Abnormality of the ureter Cryptorchidism Posteriorly rotated ears Fine hair Abnormality of the skeletal system Abnormally low-pitched voice Delayed eruption of teeth Narrow palate Infantile muscular hypotonia Thin skin Pectus carinatum Papule Mutism Neoplasm Pes planus Hypertelorism Abnormal facial shape Muscular hypotonia Low-set, posteriorly rotated ears Bladder carcinoma Congenital neuroblastoma Scarring Embryonal rhabdomyosarcoma Lymphangiectasis Multifocal atrial tachycardia Tendon rupture Alveolar rhabdomyosarcoma Neonatal sepsis Cardiomyocyte hypertrophy Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Choroid plexus papilloma Macrocephaly at birth Loose anagen hair Hidrotic ectodermal dysplasia Muscular dystrophy Thickened Achilles tendon Thin vermilion border Increased body weight Ventricular hypertrophy Low posterior hairline Decreased miniature endplate potentials Hypopigmentation of the skin Short foot Downturned corners of mouth Hirsutism Abnormal blistering of the skin Systolic heart murmur Poor speech Ophthalmoplegia Aggressive behavior Deeply set eye Dilated cardiomyopathy Micropenis Upslanted palpebral fissure Facial palsy Increased corneal curvature Vestibular Schwannoma Transitional cell carcinoma of the bladder Frontal hirsutism Deep palmar crease Schwannoma Broad femoral neck Rhabdomyosarcoma Hyperextensibility of the finger joints Pneumothorax Hypoplasia of teeth Fasting hypoglycemia Abnormal mitral valve morphology Skin fissure Asymmetric septal hypertrophy Labial hypoplasia Limited elbow movement Redundant neck skin Abnormality of the testis Lack of skin elasticity Central apnea Verrucae Large forehead Anal fissure Achilles tendon contracture Muscle weakness Thick upper lip vermilion Woolly hair Abnormality of earlobe Fetal distress Ganglioneuroblastoma Foot pain Pneumonia Left ventricular hypertrophy Elevated serum creatine phosphokinase Autoamputation Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Ainhum Bronchomalacia Agenesis of premolar Abnormal pulmonary valve morphology Circumungual hyperkeratosis Bladder neoplasm Capillary malformation Triangular mouth Melena Hematemesis Deep plantar creases Large face Papilloma Generalized hirsutism Spotty hypopigmentation Palmoplantar hyperhidrosis Everted lower lip vermilion Corneal opacity Agenesis of permanent teeth Absent eyebrow Dysphonia Type I diabetes mellitus Depressed nasal ridge Nemaline bodies Underdeveloped nasal alae Hypoplasia of the maxilla Barrel-shaped chest Hypoplastic nipples Short distal phalanx of finger Respiratory tract infection Immunodeficiency Intellectual disability, severe Respiratory distress Fever Anteverted ears Pruritus Hypoplastic fingernail Scaling skin Sparse body hair Rhinitis Ichthyosis Hearing impairment Milia Skin vesicle Aplasia/Hypoplasia of the skin Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Periorbital wrinkles Everted upper lip vermilion Dysphasia Hypoplastic-absent sebaceous glands Fatigable weakness Absent eyelashes Sensorineural hearing impairment Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Absent nipple Lipoma Anterior hypopituitarism Conical tooth Heat intolerance Erythema Taurodontia Pterygium Aphasia Broad hallux Hypointensity of cerebral white matter on MRI Abnormality of mitochondrial metabolism Subungual hyperkeratosis Amniotic constriction ring Trichorrhexis nodosa Abnormality of the kidney Abnormality of the tongue Alopecia universalis Dermal atrophy Abnormal cornea morphology Plantar hyperkeratosis Generalized osteoporosis Regional abnormality of skin Ventricular tachycardia Almond-shaped palpebral fissure Abnormal hair whorl Progressive muscle weakness Urethral stricture Abnormality of the gingiva Broad neck Acute myeloid leukemia Myeloid leukemia Ophthalmoparesis Muscle flaccidity Palmoplantar keratoderma Bilateral cleft lip Inflammatory abnormality of the skin Thickened skin Skin ulcer Increased connective tissue Keratitis Opacification of the corneal stroma Osteolysis Hypoplasia of the zygomatic bone Neoplasm of the skin Fatigue Triangular face Melanoma Neonatal respiratory distress Squamous cell carcinoma Parakeratosis Neoplasm of the lung Ankylosis Hypergranulosis Oculomotor nerve palsy Scarring alopecia of scalp Hyperconvex fingernails Progeroid facial appearance Atrial fibrillation Megalencephaly Swelling of proximal interphalangeal joints Broad forehead Abnormality of the pinna Camptodactyly Neonatal hypotonia Umbilical hernia Retrognathia Mandibular prognathia Clinodactyly Kyphosis Behavioral abnormality Hypertonia Ivory epiphyses of the distal phalanges of the hand Cone-shaped epiphyses of the proximal phalanges of the hand Talipes Chin with horizontal crease Accelerated bone age after puberty Coxa magna Cone-shaped epiphyses of the middle phalanges of the hand Pear-shaped nose Flat capital femoral epiphysis Pseudohypoparathyroidism Leukonychia Thin eyebrow Spastic ataxia Slow-growing hair Avascular necrosis of the capital femoral epiphysis Platyspondyly Round face Progressive spastic paraplegia Flat occiput Hypoplastic iliac wing Diastasis recti Down-sloping shoulders Prolactin excess Acute lymphoblastic leukemia Inverted nipples Secondary amenorrhea Absent septum pellucidum Limited elbow extension Bilateral talipes equinovarus Overlapping toe Metatarsus adductus Radial deviation of finger Lymphoma Large hands Back pain Slurred speech Accelerated skeletal maturation Coxa valga Short ribs Joint contracture of the hand Tall stature Broad thumb Pachygyria Hypertrichosis Amenorrhea Spondylolisthesis Short finger Dilation of lateral ventricles Abnormality of movement Increased susceptibility to fractures Leukoencephalopathy Bone marrow hypocellularity Leukodystrophy Telangiectasia Hemiparesis Abnormality of extrapyramidal motor function Cerebral calcification Febrile seizures Gastrointestinal hemorrhage Recurrent fractures Cirrhosis Genu valgum Portal hypertension Abnormality of the cerebral white matter Small for gestational age Abnormal pyramidal sign Retinopathy Abnormality of the liver Mental deterioration Thrombocytopenia Dystonia Blindness Tremor Optic atrophy Intrauterine growth retardation Hemiplegia Short femoral neck Cone-shaped epiphysis Arthralgia Deep philtrum Short metatarsal Scapular winging Osteoarthritis Dental malocclusion Short metacarpal Bulbous nose Smooth philtrum Paraplegia Spastic paraplegia Stroke Thin upper lip vermilion Brachydactyly Pathologic fracture Decreased pulmonary function Spastic hemiparesis Exudative retinopathy Retinal telangiectasia Retinal exudate Metaphyseal sclerosis Intestinal bleeding Morphological abnormality of the pyramidal tract Esophageal varix Calcinosis Hematochezia Abnormality of the vasculature Hydrocele testis Dimple chin Fragile nails Mitral valve prolapse Arnold-Chiari malformation Hemangioma Acanthosis nigricans Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Wide anterior fontanel Hyperpigmentation of the skin Long eyelashes Decreased body weight Thick lower lip vermilion Apraxia Hip dysplasia Laryngomalacia Abnormality of the skin Growth hormone deficiency Webbed neck Premature birth Nevus Full cheeks Sepsis Macroglossia Tetraplegia Ascites Postural instability Sleep disturbance Relative macrocephaly Poor suck Hematuria Keratoconus Thickened nuchal skin fold Microscopic hematuria Obstructive sleep apnea Neonatal hypoglycemia Arnold-Chiari type I malformation Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Reduced subcutaneous adipose tissue Hyperextensible skin Neurodevelopmental delay Rocker bottom foot Tricuspid regurgitation Hypoplastic toenails Bilateral cryptorchidism Hyperglycemia Heart murmur Pleural effusion Aortic aneurysm Failure to thrive in infancy Redundant skin Pyloric stenosis High, narrow palate Wide nose Poor fine motor coordination Dysharmonic bone age Anteverted nares Ventriculomegaly Ventricular septal defect Dysphagia Myopia Hepatomegaly Motor delay High palate Cognitive impairment Low-set ears Failure to thrive Nystagmus Flared humeral metaphysis Hydrocephalus Limited knee extension Flared femoral metaphysis Lumbar kyphosis Sacrococcygeal teratoma Horizontal eyebrow Vertebral wedging Short fourth metatarsal Prominent fingertip pads Galactorrhea Teratoma Thoracolumbar kyphosis Calcaneovalgus deformity Respiratory insufficiency Atrial septal defect Joint hypermobility Hypoglycemia Astigmatism Joint hyperflexibility Delayed puberty Pulmonic stenosis Hypermetropia Arthrogryposis multiplex congenita Irritability Feeding difficulties in infancy Apnea Intellectual disability, moderate Hypertrophic cardiomyopathy Abnormality of the nervous system Coarse facial features Edema Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Proptosis Respiratory failure Cerebral cortical atrophy Abnormal heart morphology Arrhythmia Pectus excavatum Abnormality of cardiovascular system morphology Cerebral atrophy Renal insufficiency Intellectual disability, mild Punctate keratitis


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