Brachydactyly, and Chorea

Diseases related with Brachydactyly and Chorea

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


Top matches:

Medium match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Medium match 15Q13.3 MICRODELETION SYNDROME


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

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

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Other less relevant matches:

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1A


Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

Low match PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A


Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH ). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, {188540}) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Mantovani and Spada, 2006).In contrast, pseudopseudohypoparathyroidism (PPHP ) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006).PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.

PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A Is also known as albright hereditary osteodystrophy with multiple hormone resistance|php ia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

Low match X-LINKED SPASTIC PARAPLEGIA TYPE 16


Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by Steinmuller et al., 1997).A locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 (Steinmuller et al., 1997).For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see {303350}.

X-LINKED SPASTIC PARAPLEGIA TYPE 16 Is also known as spg16

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED SPASTIC PARAPLEGIA TYPE 16

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME


Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Low match BENIGN HEREDITARY CHOREA


BENIGN HEREDITARY CHOREA Is also known as benign familial chorea|bhc

Related symptoms:

  • Gait disturbance
  • Abnormality of movement
  • Chorea


SOURCES: OMIM ORPHANET MENDELIAN

More info about BENIGN HEREDITARY CHOREA

Low match AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY


Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.

AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY Is also known as autosomal recessive spastic ataxia type 6|charlevoix-saguenay spastic ataxia|autosomal recessive spastic ataxia of charlevoix-saguenay|spax6|spastic ataxia 6, autosomal recessive|arsacs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Top 5 symptoms//phenotypes associated to Brachydactyly and Chorea

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Choreoathetosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Chorea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hyporeflexia Global developmental delay Generalized hypotonia Ataxia Short stature Hyperreflexia Abnormality of the skeletal system Dysarthria Spastic paraplegia Anxiety Motor delay Cognitive impairment Cerebellar atrophy Short neck Depressed nasal bridge Paraplegia Sensorineural hearing impairment Strabismus Hearing impairment Babinski sign

Rare Symptoms - Less than 30% cases


Conjunctivitis Prolonged QT interval Reduced bone mineral density Short metatarsal Polyphagia Thickened calvaria Hypocalcemia Chest pain Hypergonadotropic hypogonadism Confusion Cataract Hypertension Obesity Depressivity Dyspnea Irritability Paresthesia Increased bone mineral density Delayed eruption of teeth Muscle cramps Full cheeks Round face Short metacarpal Growth hormone deficiency Hypoplasia of dental enamel Basal ganglia calcification Elevated circulating parathyroid hormone level Oligomenorrhea Short distal phalanx of finger Low urinary cyclic AMP response to PTH administration Choroid plexus calcification Osteoma cutis Hyperostosis frontalis interna Pituitary resistance to thyroid hormone Broad 1st metacarpal Urinary incontinence Short fifth metatarsal Urinary urgency Abnormal facial shape High palate Hypoplasia of the corpus callosum Gastroesophageal reflux Scoliosis Myoclonus Short 3rd metacarpal Abdominal symptom Spinal cord compression Laryngeal dystonia Hyperphosphatemia Short 4th metacarpal Calcinosis Cerebellar vermis atrophy Constrictive median neuropathy Short 5th metacarpal Pseudohypoparathyroidism Ectopic ossification Hypocalcemic seizures Band keratopathy Prolactin deficiency Myoclonic spasms Hypocalcemic tetany Abnormal platelet function Elevated calcitonin Mood swings Broad distal phalanx of the thumb Visual impairment Dysphagia Short foot Distal amyotrophy Dysmetria Lower limb muscle weakness Abnormality of the foot Hydronephrosis Difficulty walking Gait ataxia Pes cavus Intellectual disability, mild Behavioral abnormality Anteverted nares Frontal bossing Lower limb spasticity Skeletal muscle atrophy Epicanthus Low-set ears Failure to thrive Hypertelorism Abnormality of movement Microcephaly Cleft palate Kyphoscoliosis Clinodactyly Pectus excavatum Absent speech Abnormal cerebellum morphology Muscle weakness Hammertoe Impaired vibratory sensation Immunodeficiency Severe combined immunodeficiency Limb hypertonia Hydrocele testis Vertical nystagmus Hoarse cry Vasculitis in the skin Membranoproliferative glomerulonephritis Large fleshy ears Gait disturbance Allergic rhinitis Peripheral neuropathy Cystic hygroma Atopic dermatitis EEG abnormality Distal muscle weakness Abnormal pyramidal sign Unsteady gait Peripheral axonal neuropathy Falls Distal sensory impairment Progressive cerebellar ataxia Mitral valve prolapse Cerebellar vermis hypoplasia Anal stenosis Cupped ear Prominent occiput Vesicoureteral reflux Cleft lip Abnormality of the pinna Wide mouth Abnormal cardiac septum morphology Prominent nasal bridge Synophrys Anal atresia Thin vermilion border Flat face Pulmonary hypoplasia Brain atrophy Delayed myelination Sensorimotor neuropathy Focal-onset seizure Narrow forehead Congenital diaphragmatic hernia Open mouth Amblyopia Autoimmune neutropenia Tented upper lip vermilion Abnormality of the urinary system Patent foramen ovale Focal impaired awareness seizure Overfolded helix Intention tremor Absence seizures Foot dorsiflexor weakness Abnormality of the nervous system Scanning speech Sensory impairment Asthma Neutropenia Gaze-evoked horizontal nystagmus Hemolytic anemia Decreased sensory nerve conduction velocity Erythema Respiratory tract infection Vitamin E deficiency Impaired tactile sensation Lymphoma Loss of Purkinje cells in the cerebellar vermis Conductive hearing impairment Parietal cortical atrophy Recurrent respiratory infections Abnormality of the pons Abnormal motor evoked potentials Hypermyelinated retinal nerve fibers Abnormality of the cerebellar peduncle Progressive truncal ataxia Recurrent infections Swan neck-like deformities of the fingers Decreased number of large peripheral myelinated nerve fibers Eczema Anemia Progressive gait ataxia Decreased nerve conduction velocity Cone-shaped epiphysis Decreased motor nerve conduction velocity Combined immunodeficiency Glomerulonephritis Impotence Progressive spasticity Progressive spastic paraplegia Impaired vibration sensation in the lower limbs Arachnoid cyst Impaired smooth pursuit Inflammatory abnormality of the skin Recurrent skin infections Neonatal hypotonia Leukopenia Demyelinating peripheral neuropathy Absent Achilles reflex Narrow palpebral fissure Vasculitis Upper motor neuron dysfunction Lymphopenia Spastic ataxia Bronchiectasis Muscular hypotonia of the trunk Ankle clonus Coarse facial features Joint hypermobility Hallucinations Progressive muscle weakness Psychosis Overgrowth Specific learning disability Prominent nose Gliosis Sleep disturbance Cerebral calcification Involuntary movements Genu valgum Clonus Camptodactyly Constipation Midface retrusion Autoimmune antibody positivity Downslanted palpebral fissures Delayed speech and language development Flexion contracture Growth delay Bipolar affective disorder Schizophrenia Ankyloglossia Spastic gait Hoarse voice Cerebral visual impairment Abnormality of brain morphology Spastic diplegia Ankle contracture Premature loss of teeth Upper limb muscle weakness Dysuria Abnormality of the thumb Spastic dysarthria Speech apraxia Upper limb spasticity Overbite Abnormality of the nares Abnormal hand morphology Spastic paraparesis Knee clonus Panic attack Narrow jaw Suicidal ideation Morphea Hyperextensible hand joints Hyperplasia of midface Emotional lability Abnormality of the hand Slurred speech Drooling Rotary nystagmus Blue sclerae Macrotia Atrial septal defect Low frustration tolerance Functional abnormality of the bladder Functional abnormality of the gastrointestinal tract Motor aphasia Abnormality of the hallux Micrognathia Syndactyly Macrocephaly Tremor Ventriculomegaly Scleroderma Hypertonia Sensory ataxia Splenomegaly Short nose Long philtrum Cerebral atrophy Hernia Patent ductus arteriosus Posteriorly rotated ears Upslanted palpebral fissure Brachycephaly Polyhydramnios Feeding difficulties Lower limb amyotrophy Shuffling gait Toe syndactyly Congenital hypothyroidism Pectus carinatum Joint laxity Diarrhea Abnormality of the dentition Osteoporosis Hypogonadism Hypothyroidism Hypoglycemia Subcutaneous nodule Short toe Short finger Exocrine pancreatic insufficiency Facial hypotonia Tetany Parathyroid hyperplasia Shortening of all distal phalanges of the fingers Subcutaneous calcification Optic atrophy Visual loss Hypoplasia of the maxilla Tetraplegia Aphasia Restlessness Urinary bladder sphincter dysfunction Cortical myoclonus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Prominent nasal bridge, related diseases and genetic alterations Neuroblastoma and Lactic acidosis, related diseases and genetic alterations Hyperreflexia and Lymphadenopathy, related diseases and genetic alterations

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