Dysarthria, and Sparse hair

Diseases related with Dysarthria and Sparse hair

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Medium 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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Other less relevant matches:

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Medium 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

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

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

Medium match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Medium match WEAVER SYNDROME; WVS

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

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Top 5 symptoms//phenotypes associated to Dysarthria and Sparse hair

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Fine hair Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Sparse hair. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Delayed speech and language development Microcephaly Cryptorchidism Intrauterine growth retardation Growth delay Hearing impairment Downslanted palpebral fissures Scoliosis Ataxia Tremor Small for gestational age Alopecia Global developmental delay Generalized hypotonia Hypertelorism Strabismus Diabetes mellitus Postnatal growth retardation Gait disturbance Babinski sign Hypothyroidism Osteoporosis Mental deterioration Abnormal pyramidal sign Abnormality of the cerebral white matter Dysmetria Hypogonadism Abnormality of extrapyramidal motor function Slurred speech Cognitive impairment Intellectual disability, severe Hyperreflexia Sensorineural hearing impairment Epicanthus Macrotia Delayed skeletal maturation Hypertension Sparse scalp hair Pain Hypertonia Inguinal hernia Hypotelorism Long philtrum Prominent nasal bridge Pes cavus Clinodactyly Hernia

Rare Symptoms - Less than 30% cases

Down-sloping shoulders High pitched voice Peripheral neuropathy Behavioral abnormality High palate Renal hypoplasia Frontal bossing Diarrhea Muscular hypotonia Carious teeth Round face Full cheeks Delayed puberty Abnormally low-pitched voice Abnormality of lipid metabolism Radial deviation of finger Cutis laxa Hyperlordosis Joint laxity Dystonia High forehead Micropenis Choreoathetosis Osteopenia Thrombocytopenia Recurrent fractures Gastrointestinal hemorrhage Anemia Nail dysplasia Flat occiput Bone marrow hypocellularity Mandibular prognathia Hypergonadotropic hypogonadism Abnormal facial shape Neoplasm Retinopathy Thin nail Decreased testicular size Dental malocclusion Triangular face Brachydactyly Polyneuropathy Sensory neuropathy Abnormality of movement Hypotrichosis Protruding ear Dilatation Camptodactyly Umbilical hernia Amenorrhea Abnormality of the dentition Nystagmus Underdeveloped nasal alae Telecanthus Tetraparesis Brisk reflexes Leukoencephalopathy Spastic ataxia Neurodegeneration Back pain Long face Short philtrum Short chin Smooth philtrum Broad-based gait Dementia Synophrys Rigidity Prominent nose Wide nasal bridge Hypoplasia of the corpus callosum Stroke Pectus excavatum Hemiparesis Shuffling gait Hypopigmentation of hair Hypermetropia Prolonged neonatal jaundice Tarsal synostosis Prominent occiput Atypical scarring of skin Opisthotonus Osteomyelitis Myopathic facies Cerebral hemorrhage Mask-like facies Exostoses Chondrocalcinosis Hypothermia Hypocupremia Talipes equinovarus Macrocephaly Depressed nasal bridge Flexion contracture Increased circulating gonadotropin level Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Low hanging columella Multiple joint dislocation Woolly hair Spontaneous hematomas Misalignment of teeth Arterial stenosis Venous insufficiency Trichorrhexis nodosa Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Intracranial hemorrhage Pili torti Metaphyseal widening Joint dislocation Hyperextensible skin Motor delay Chronic lung disease Hypoglycemia Jaundice Brachycephaly Glioma Multinodular goiter Cerebral atrophy Cerebellar atrophy Fatigue Gastrointestinal stroma tumor Feeding difficulties in infancy Muscle weakness Failure to thrive Ivory epiphyses of the distal phalanges of the hand Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Chin with horizontal crease Accelerated bone age after puberty Coxa magna Cone-shaped epiphyses of the middle phalanges of the hand Developmental regression Severe global developmental delay Coarse hair Abnormality of the metaphysis Abnormal palate morphology Shock Spastic tetraparesis Prominent forehead Wormian bones Thickened skin Chronic diarrhea Abnormality of the face Bowing of the long bones Progressive neurologic deterioration Malabsorption Intellectual disability, profound Generalized-onset seizure Chorea Sepsis Hypopigmentation of the skin Dry skin Joint hyperflexibility Narrow chest Nausea and vomiting Kyphosis Platyspondyly Hyperhidrosis Lymphopenia Deep-set nails Sloping forehead Apraxia Epidermal acanthosis Cutaneous photosensitivity Abnormal lung morphology Horizontal eyebrow Vertebral wedging Insulin resistance Acanthosis nigricans Lumbar kyphosis Short fourth metatarsal Leukopenia Goiter Dysdiadochokinesis Postural tremor Unilateral renal agenesis Prominent fingertip pads Galactorrhea Teratoma Sacrococcygeal teratoma Flared femoral metaphysis Calcaneovalgus deformity Obesity Dilated cardiomyopathy Broad nasal tip Attention deficit hyperactivity disorder Progressive cerebellar ataxia Deeply set eye Renal agenesis Severe short stature Convex nasal ridge Limb undergrowth Midface retrusion Limited knee extension Recurrent infections Immunodeficiency Cardiomyopathy Ventriculomegaly Cataract Dysharmonic bone age Pigmentary retinopathy Flared humeral metaphysis Bradykinesia Thoracolumbar kyphosis Bilateral cryptorchidism Cerebellar vermis atrophy Pachygyria Ectopic kidney Cortical gyral simplification Hoarse voice Joint contracture of the hand Lymphedema Tall stature Truncal obesity Long nose Broad thumb Hypertrichosis Pointed chin Overgrowth Lymphoma Talipes Falls Leukemia Broad forehead Abnormality of the pinna Neonatal hypotonia Retrognathia Short ribs Coxa valga Sensory axonal neuropathy Prolactin excess Poor fine motor coordination Dimple chin Broad philtrum Dilation of lateral ventricles Broad face Large earlobe Hydrocele testis Hypoplastic iliac wing Diastasis recti Acute lymphoblastic leukemia Accelerated skeletal maturation Inverted nipples Secondary amenorrhea Absent septum pellucidum Limited elbow extension Bilateral talipes equinovarus Large for gestational age Overlapping toe Metatarsus adductus Large hands Pear-shaped nose Milia Flat capital femoral epiphysis Bilateral sensorineural hearing impairment Sparse eyebrow Premature ovarian insufficiency Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Hallucinations Primary amenorrhea Myocardial infarction Psychosis Dehydration Hypoplasia of the uterus Arthrogryposis multiplex congenita Abnormality of metabolism/homeostasis Intellectual disability, mild Increased vertebral height Kinetic tremor Recurrent hypoglycemia Prominent superficial veins Maternal diabetes Ketoacidosis Aplasia/Hypoplasia of the eyebrow Autoimmune thrombocytopenia Hyperglycemia Progressive alopecia Thin skin Cerebral calcification Febrile seizures Cirrhosis Genu valgum Nail dystrophy Abnormality of the liver Blindness Optic atrophy Hypoplasia of the fallopian tube Insulin-resistant diabetes mellitus Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Polyuria Hypoplasia of the brainstem Leukodystrophy Achilles tendon contracture Spastic gait Diplopia Peripheral demyelination Memory impairment Urinary incontinence Unsteady gait Ophthalmoplegia Encephalopathy Dysphagia Thick upper lip vermilion Emotional lability Narrow face Progressive microcephaly Eczema Esotropia Thick eyebrow Blepharophimosis Muscular hypotonia of the trunk Elevated serum creatine phosphokinase Myopathy Apathy Urinary urgency Polydipsia Gait ataxia Oligodontia Type I diabetes mellitus Truncal ataxia Abnormal vertebral morphology Blue sclerae Delayed myelination Downturned corners of mouth Kyphoscoliosis Narrow mouth Arteriosclerosis of small cerebral arteries Gaze-evoked nystagmus Diffuse demyelination of the cerebral white matter Diffuse leukoencephalopathy Pseudobulbar signs Knee pain Diffuse white matter abnormalities Pseudobulbar paralysis Arteriosclerosis Low back pain Stroke-like episode Progressive encephalopathy Telangiectasia Increased susceptibility to fractures Pseudohypoparathyroidism Gray matter heterotopias Pes planus Arthralgia Posteriorly rotated ears Recurrent respiratory infections Abnormality of the skeletal system Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Hypothalamic hamartoma Low-set, posteriorly rotated ears Tongue nodules Lobulated tongue Narrow naris Deviation of finger Pancreatic cysts Hepatic cysts Porencephalic cyst Dry hair Ovarian cyst Thin upper lip vermilion Pectus carinatum Bifid tongue Cone-shaped epiphysis Leukonychia Thin eyebrow Concave nail Slow-growing hair Avascular necrosis of the capital femoral epiphysis Spondylolisthesis Sparse lateral eyebrow Progressive spastic paraplegia Short finger Deep philtrum Spastic paraplegia Short metatarsal Infantile muscular hypotonia Scapular winging Narrow palate Osteoarthritis Microdontia Short metacarpal Delayed eruption of teeth Bulbous nose Paraplegia Abnormality of the pancreas Abnormal cortical gyration Hemiplegia Retinal exudate Syndactyly Renal insufficiency Hydrocephalus Low-set ears Cleft palate Decreased pulmonary function Spastic hemiparesis Exudative retinopathy Retinal telangiectasia Metaphyseal sclerosis Abnormal heart morphology Intestinal bleeding Morphological abnormality of the pyramidal tract Esophageal varix Oral leukoplakia Calcinosis Hematochezia Abnormality of the vasculature Pathologic fracture Short femoral neck Portal hypertension Depressivity Agenesis of corpus callosum Myelomeningocele Microretrognathia Arachnoid cyst Median cleft lip Increased number of teeth Atrioventricular canal defect Nephronophthisis Agenesis of permanent teeth Molar tooth sign on MRI Polycystic kidney dysplasia Cutaneous syndactyly Hepatic fibrosis Polydactyly Hypoplasia of dental enamel Bifid uvula Abnormal cerebellum morphology Postaxial polydactyly Stage 5 chronic kidney disease Oral cleft Facial asymmetry Abnormality of the kidney Cleft lip Proteinuria Long neck


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