Dysarthria, and Sparse scalp hair

Diseases related with Dysarthria and Sparse scalp hair

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

Top 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

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

High 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

Other less relevant 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

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

Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Alopecia Micrognathia Global developmental delay Fine hair Intrauterine growth retardation Generalized hypotonia Delayed speech and language development Hearing impairment Hypertelorism Downslanted palpebral fissures Intellectual disability, severe Tremor Abnormality of the cerebral white matter Growth delay Abnormality of extrapyramidal motor function Scoliosis Osteoporosis Thin upper lip vermilion Hyperreflexia Strabismus Mental deterioration Ataxia Thick eyebrow Small for gestational age Hypertension Brachydactyly Abnormal heart morphology Wide nasal bridge

Rare Symptoms - Less than 30% cases

Hyperlordosis Stroke Carious teeth Delayed skeletal maturation Smooth philtrum Microdontia Spastic ataxia Osteopenia Pain Macrotia Clinodactyly Posteriorly rotated ears Abnormality of the skeletal system Brisk reflexes Dysmetria Gastrointestinal hemorrhage Underdeveloped nasal alae Short philtrum Postnatal growth retardation Telecanthus Abnormality of the dentition Epicanthus Hypoplasia of the corpus callosum Tetraparesis Full cheeks Cryptorchidism Recurrent fractures Leukoencephalopathy Feeding difficulties in infancy Dementia Pectus excavatum Dilatation Hypertonia Hypotelorism Abnormal pyramidal sign Neurodegeneration Hemiparesis Abnormality of movement Frontal bossing Choreoathetosis Prominent nasal bridge Protruding ear Hypothyroidism Diabetes mellitus Hypogonadism Babinski sign Dystonia Prominent nose Wide nose Diarrhea Wide mouth Coarse facial features Dental malocclusion Cognitive impairment Feeding difficulties Depressed nasal bridge High palate Gait disturbance Delayed puberty Hypotrichosis Sensorineural hearing impairment Recurrent hypoglycemia Increased vertebral height Kinetic tremor Telangiectasia Prominent superficial veins Anemia Down-sloping shoulders Portal hypertension Ketoacidosis High pitched voice Polyuria Hyperglycemia Hypoplasia of the brainstem Maternal diabetes Thrombocytopenia Optic atrophy Increased susceptibility to fractures Thin skin Bone marrow hypocellularity Cerebral calcification Febrile seizures Nail dysplasia Cirrhosis Hemiplegia Blindness Oligodontia Genu valgum Nail dystrophy Retinopathy Abnormality of the liver Leukodystrophy Polydipsia Multiple glomerular cysts Type I diabetes mellitus Gaze-evoked nystagmus Broad philtrum Pseudobulbar paralysis Arteriosclerosis Low back pain Stroke-like episode Progressive encephalopathy Urinary urgency Knee pain Emotional lability Apathy Back pain Slurred speech Sagittal craniosynostosis Spastic gait Diplopia Diffuse white matter abnormalities Trigonocephaly Truncal ataxia Short femoral neck Abnormal vertebral morphology Renal hypoplasia Blue sclerae Round face Delayed myelination Downturned corners of mouth Kyphoscoliosis Narrow mouth Pseudobulbar signs Gait ataxia Otitis media Recurrent otitis media Arnold-Chiari malformation Arteriosclerosis of small cerebral arteries Diffuse demyelination of the cerebral white matter Diffuse leukoencephalopathy Hypermetropia Hematochezia Neurological speech impairment Atrioventricular canal defect Dandy-Walker malformation Abnormality of the pancreas Bifid tongue Abnormal cortical gyration Myelomeningocele Arachnoid cyst Median cleft lip Increased number of teeth Nephronophthisis Dry hair Agenesis of permanent teeth Milia Molar tooth sign on MRI Radial deviation of finger Small nail Polycystic kidney dysplasia Cutaneous syndactyly Microretrognathia Ovarian cyst Porencephalic cyst Hypoplasia of dental enamel Recurrent infections Abnormality of toe Trident hand Abnormal facial shape Ptosis Anteverted nares Gray matter heterotopias Atrial septal defect Hypothalamic hamartoma Absent speech Hepatic cysts Cerebellar hypoplasia Tongue nodules Lobulated tongue Narrow naris Arachnodactyly Deviation of finger Pancreatic cysts Short distal phalanx of finger Hepatic fibrosis Bifid uvula Pathologic fracture Metaphyseal sclerosis Constipation Cleft palate Prominent forehead Decreased pulmonary function Spastic hemiparesis Exudative retinopathy Retinal telangiectasia Retinal exudate Intestinal bleeding Hydrocephalus Craniosynostosis Morphological abnormality of the pyramidal tract Esophageal varix Oral leukoplakia Calcinosis Alveolar ridge overgrowth Abnormality of the vasculature Abnormal cardiac septum morphology Low-set ears Thick nasal alae Abnormal cerebellum morphology Thick lower lip vermilion Postaxial polydactyly Stage 5 chronic kidney disease Oral cleft Facial asymmetry Peripheral demyelination Cleft lip Proteinuria Polydactyly Long eyelashes Renal insufficiency Low anterior hairline Agenesis of corpus callosum Sandal gap Hypoplastic toenails Slender finger Depressivity Dystrophic toenail Syndactyly Abnormal corpus callosum morphology Abnormality of the kidney Multiple joint dislocation Memory impairment Narrow palate Progressive spastic paraplegia Short finger Cone-shaped epiphysis Deep philtrum Short metatarsal Infantile muscular hypotonia Scapular winging Osteoarthritis Spondylolisthesis Short metacarpal Delayed eruption of teeth Bulbous nose Paraplegia Spastic paraplegia Pectus carinatum Low-set, posteriorly rotated ears Pes planus Sparse lateral eyebrow Avascular necrosis of the capital femoral epiphysis Recurrent respiratory infections Coxa magna Muscular hypotonia 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 Abnormally low-pitched voice Slow-growing hair Cone-shaped epiphyses of the middle phalanges of the hand Pear-shaped nose Thin nail Flat capital femoral epiphysis Pseudohypoparathyroidism Leukonychia Thin eyebrow Concave nail Arthralgia Long philtrum Fatigue Triangular face Hallucinations Primary amenorrhea Myocardial infarction Psychosis Bilateral sensorineural hearing impairment Dehydration Amenorrhea Decreased testicular size Polyneuropathy Hypogonadotrophic hypogonadism Sensory neuropathy Arthrogryposis multiplex congenita Camptodactyly High forehead Micropenis Abnormality of metabolism/homeostasis Intellectual disability, mild Peripheral neuropathy Hypergonadotropic hypogonadism Purpura Progressive alopecia Decreased serum testosterone level Hypoplasia of the fallopian tube 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 Anodontia Hyperlipidemia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Premature ovarian insufficiency Motor delay Cerebellar atrophy Urinary incontinence Bladder diverticulum Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Spontaneous hematomas Arterial stenosis Venous insufficiency Trichorrhexis nodosa Aplasia/Hypoplasia of the abdominal wall musculature Myopathy Chondrocalcinosis Pili torti Woolly hair Hypothermia Atypical scarring of skin Exostoses Abnormality of lipid metabolism Hypopigmentation of hair Therapeutic abortion Elevated serum creatine phosphokinase Tarsal synostosis Short chin Unsteady gait Ophthalmoplegia Rigidity Encephalopathy Dysphagia Nystagmus Achilles tendon contracture Thick upper lip vermilion Narrow face Pes cavus Progressive microcephaly Broad-based gait Eczema Esotropia Long face Synophrys Blepharophimosis Muscular hypotonia of the trunk Prolonged neonatal jaundice Prominent occiput Behavioral abnormality Severe global developmental delay Chorea Sepsis Hypopigmentation of the skin Dry skin Joint hyperflexibility Narrow chest Nausea and vomiting Malabsorption Developmental regression Intellectual disability, profound Joint laxity Hypoglycemia Jaundice Umbilical hernia Brachycephaly Inguinal hernia Hernia Cerebral atrophy Generalized-onset seizure Progressive neurologic deterioration Opisthotonus Abnormal palate morphology Osteomyelitis Myopathic facies Cerebral hemorrhage Mask-like facies Metaphyseal widening Intracranial hemorrhage Hyperextensible skin Coarse hair Shock Abnormality of the metaphysis Cutis laxa Spastic tetraparesis Joint dislocation Wormian bones Thickened skin Chronic diarrhea Abnormality of the face Bowing of the long bones Small pituitary gland


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