Dysarthria, and Short metacarpal

Diseases related with Dysarthria and Short metacarpal

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

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

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Other less relevant matches:

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Is also known as acromesomelic dwarfism

Related symptoms:

  • Scoliosis
  • Cognitive impairment
  • Brachydactyly
  • Joint stiffness
  • Neurological speech impairment


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE

MMDS4 is an autosomal recessive neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased CSF glycine and decreased activity of mitochondrial complex II; there may be additional biochemical evidence of mitochondrial dysfunction (summary by Alaimo et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4

Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Short neck


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYGGVE-MELCHIOR-CLAUSEN DISEASE

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Short metacarpal

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Scoliosis 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 Short metacarpal. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Abnormality of the skeletal system Short stature Global developmental delay Brachycephaly Pectus carinatum Hypotrichosis Sparse hair Smooth philtrum Ataxia Neurological speech impairment Avascular necrosis of the capital femoral epiphysis Coarse facial features Hip dislocation Short metatarsal Cone-shaped epiphysis Spasticity Cataract Nystagmus

Rare Symptoms - Less than 30% cases

Failure to thrive Hearing impairment Deeply set eye Kyphoscoliosis Intellectual disability, severe Strabismus Severe short stature Synophrys Abnormal facial shape Kyphosis Epicanthus Optic atrophy Hyporeflexia Abnormality of finger Dyskinesia Abnormality of epiphysis morphology Ectopic calcification Short 4th metacarpal Cognitive impairment Joint stiffness Feeding difficulties Absent speech Short neck Autism Postnatal growth retardation Mandibular prognathia Specific learning disability Syndactyly Abnormality of the dentition Downslanted palpebral fissures Cryptorchidism Obesity Full cheeks Abnormality of the metacarpal bones Sandal gap Muscle stiffness Short thumb Pseudohypoparathyroidism Short palm Sparse scalp hair Pes planus Infantile muscular hypotonia Delayed eruption of teeth Micrognathia Pain Alopecia High palate Long philtrum Hyperlordosis Carious teeth Delayed skeletal maturation Epileptic spasms Hypogonadism Sloping forehead Lumbar hyperlordosis Abnormality of the metaphysis Short palpebral fissure Micromelia Genu valgum Platyspondyly Attention deficit hyperactivity disorder Coxa vara Abnormality of the nervous system Skeletal dysplasia Broad distal phalanx of finger Excessive wrinkled skin Eclabion Broad columella Hallux valgus Thoracic kyphosis Carpal bone hypoplasia Spondyloepimetaphyseal dysplasia Disproportionate short-trunk short stature Hypoplastic pelvis Abnormality of the wrist Barrel-shaped chest Cone-shaped epiphyses of the phalanges of the hand Hypoplasia of the odontoid process Short femoral neck Enlarged joints Spinal canal stenosis Thickened calvaria Disproportionate short stature Abnormality of the hip bone Recurrent lower respiratory tract infections Short thorax Wide nasal base Vegetative state Leukodystrophy Abnormality of the periventricular white matter Ovarian fibroma Prominent eyelashes Prominent interphalangeal joints Hamartomatous stomach polyps Irregular ossification of hand bones Unilateral narrow palpebral fissure Cardiac fibroma Bridged sella turcica Plantar pits Odontogenic keratocysts of the jaw Abnormality of pelvic girdle bone morphology Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Bilateral single transverse palmar creases Elbow dislocation Abnormality of mitochondrial metabolism Respiratory insufficiency Prominent sternum Toe syndactyly Abnormality of the cerebral white matter Developmental regression Muscular hypotonia of the trunk Joint laxity Respiratory failure Thick nasal alae Clubbing of toes Tarsal synostosis Hyperreflexia Visual impairment Curly eyelashes Abnormally shaped carpal bones Cuboidal metacarpal Acromesomelia Severe short-limb dwarfism Abnormality of the ankles Patellar dislocation Hypoplastic ischia Abnormality of the ilium Shoulder dislocation Intrauterine growth retardation Joint dislocation Osteoporosis Narrow palpebral fissure Hernia Abnormality of cardiovascular system morphology Accelerated skeletal maturation Anteverted nares Widely spaced teeth Absence seizures Growth delay Cortical subperiosteal resorption of humeral metaphyses Increased bone density with cystic changes Drooling Pituitary resistance to thyroid hormone Low urinary cyclic AMP response to PTH administration Abdominal symptom Mutism Aggressive behavior Low anterior hairline Hypocalcemic tetany Everted lower lip vermilion Broad-based gait Status epilepticus Eczema Wide intermamillary distance Broad nasal tip Triangular face Long eyelashes Highly arched eyebrow High, narrow palate Short phalanx of finger Wide nose Thick eyebrow Thin vermilion border Poor speech Small for gestational age Blepharophimosis Wide mouth Autistic behavior Diaphyseal sclerosis Myoclonic spasms Hypoplastic sacrum Dyspnea Round face Abnormal hair pattern Chest pain Abnormality of the testis Muscle cramps Paresthesia Irritability Anxiety Broad philtrum Echolalia Depressivity Renal insufficiency Depressed nasal bridge Bipolar affective disorder Schizophrenia Thick lower lip vermilion Irregular iliac crest Distal ulnar hypoplasia Growth hormone deficiency Hypoplasia of dental enamel Hypocalcemic seizures Multiple impacted teeth Overfolded helix Absent eyebrow Laryngeal dystonia Tetany Aphasia Autoimmune antibody positivity Elevated circulating parathyroid hormone level Dysphasia Narrow nasal bridge Increased bone mineral density Calcinosis Hyperphosphatemia Hyperparathyroidism Prolonged QT interval Reduced bone mineral density Conjunctivitis Hypocalcemia Protruding tongue Severe hydrocephalus Glomerulonephritis Ovarian carcinoma Flexion contracture Areflexia Recurrent infections Cerebral atrophy Hypertonia Cerebellar atrophy Myopathy Skeletal muscle atrophy Peripheral neuropathy Ptosis Cerebellar hypoplasia Muscular hypotonia Muscle weakness 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 Elevated serum creatine phosphokinase Cerebral cortical atrophy Cone-shaped epiphyses of the middle phalanges of the hand Progressive muscle weakness Congenital muscular dystrophy Cubitus valgus Dysphonia Type I diabetes mellitus Coxa valga Hypergonadotropic hypogonadism Sensorimotor neuropathy Limb ataxia Hypertrichosis Gait ataxia Hip dysplasia Decreased antibody level in blood Progressive cerebellar ataxia Microcornea Congenital cataract Muscular dystrophy Intellectual disability, moderate Rigidity Abnormally low-pitched voice Pear-shaped nose External genital hypoplasia Enuresis Thin upper lip vermilion Arthralgia Osteopenia Macrotia Posteriorly rotated ears Recurrent respiratory infections Enuresis nocturna Oval face Infantile spasms Protruding ear Nasal speech Spastic paraparesis Short chin Paraparesis Hypsarrhythmia Small hand Facial asymmetry Babinski sign Low-set, posteriorly rotated ears Stroke Thin nail Progressive spastic paraplegia Flat capital femoral epiphysis Leukonychia Thin eyebrow Concave nail Spastic ataxia Slow-growing hair Spondylolisthesis Sparse lateral eyebrow Short finger Spastic paraplegia Deep philtrum Scapular winging Narrow palate Osteoarthritis Fine hair Microdontia Dental malocclusion Bulbous nose Paraplegia Myopathic facies Rimmed vacuoles Parietal bossing Neoplasm of the skin Long fingers Basal cell carcinoma Milia Disproportionate tall stature Inflammation of the large intestine Melanocytic nevus Nephritis Relative macrocephaly Spina bifida occulta Vertebral fusion Hemivertebrae Hypogonadotrophic hypogonadism Short ribs Spina bifida Bradycardia Hyperpigmentation of the skin Exotropia Hemiparesis Agenesis of permanent teeth Colitis Cerebral calcification Brain neoplasm Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Medulloblastoma Astrocytoma Ulcerative colitis Abnormality of the sternum Broad face Neoplasm of the endocrine system Abnormality of the neck Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the ribs Hypotension Centrally nucleated skeletal muscle fibers Aplasia/Hypoplasia involving the skeletal musculature Frontal bossing Macrocephaly Wide nasal bridge Motor delay Cleft palate Neoplasm Hypertelorism Abnormal aldolase level Abnormal lactate dehydrogenase activity Microphthalmia Cerebellar cortical atrophy Metatarsus valgus Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Muscle flaccidity Muscle fiber necrosis Autophagic vacuoles Mild global developmental delay Hydrocephalus Pectus excavatum Nevus Facial palsy Palmoplantar keratoderma Postaxial polydactyly Iris coloboma Oral cleft Cleft upper lip Arachnodactyly Papule Coloboma Cleft lip Visual loss Telecanthus Proteinuria Carcinoma EEG abnormality Retrognathia Proptosis Polydactyly Glaucoma Abdominal pain Prominent proximal interphalangeal joints


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