Brachydactyly, and Choreoathetosis

Diseases related with Brachydactyly and Choreoathetosis

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


Top matches:

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

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

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Other less relevant matches:

Medium 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

Medium 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 Choreoathetosis

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

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

Uncommon Symptoms - Between 30% and 50% cases


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

Rare Symptoms - Less than 30% cases


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



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