Brachydactyly, and Lower limb muscle weakness

Diseases related with Brachydactyly and Lower limb muscle weakness

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


Top matches:

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

Low match HEART-HAND SYNDROME, SLOVENIAN TYPE


Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.

HEART-HAND SYNDROME, SLOVENIAN TYPE Is also known as atriodigital dysplasia, slovenian type|cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Brachydactyly
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEART-HAND SYNDROME, SLOVENIAN TYPE

Low match SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE


Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).

SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE Is also known as sed, stanescu type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

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Other less relevant matches:

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 ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

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 SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A


Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

Low match NEUROPATHY, PAINFUL


Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

Low match ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Low-set ears
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9

Low match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Top 5 symptoms//phenotypes associated to Brachydactyly and Lower limb muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Clinodactyly Common - Between 50% and 80% cases
Babinski sign Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Lower limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spastic paraplegia Paraplegia Spasticity Skeletal muscle atrophy Pes cavus Difficulty walking Abnormality of the foot Intellectual disability Abnormal cerebellum morphology Specific learning disability Impaired vibratory sensation Syndactyly Limb muscle weakness Scoliosis Nystagmus Peripheral neuropathy Urinary incontinence Urinary urgency Lower limb spasticity Arrhythmia Flexion contracture Motor delay Abnormality of the skeletal system Low-set ears Dysarthria

Rare Symptoms - Less than 30% cases


Myopia Hammertoe Cerebellar vermis atrophy Upper limb muscle weakness Mood swings Cognitive impairment Dolichocephaly Dilated cardiomyopathy Abnormal atrioventricular conduction Hearing impairment Intellectual disability, mild Spastic paraparesis Ataxia Hypertelorism Growth delay Ventricular extrasystoles Progressive spasticity Global developmental delay Ventricular tachycardia Syncope Hypoplasia of the maxilla Cleft palate Clinodactyly of the 5th finger Thin vermilion border Unsteady gait Broad forehead Choreoathetosis Distal amyotrophy Genu valgum Behavioral abnormality Kyphoscoliosis Gait ataxia Dysphagia Cerebellar atrophy Dysmetria Delayed eruption of permanent teeth Clinodactyly of the 5th toe First degree atrioventricular block Sinusitis Periodic paralysis Abnormal T-wave Short digit Torsade de pointes T-wave inversion Left bundle branch block Pulmonary valve atresia Effort-induced polymorphic ventricular tachycardias Short mandibular rami Periodic hypokalemic paresis Short finger Muscle fiber tubular inclusions Antegonial notching of mandible Bidirectional ventricular ectopy Prominent frontal sinuses Aplasia/Hypoplasia of the maxilla Poor appetite Interrupted aortic arch Strabismus Visual impairment Optic atrophy Visual loss Hyperventilation Right bundle branch block Tetralogy of Fallot with absent pulmonary valve Palpitations Right ventricular hypertrophy Bulbous nose Short palm Wide nose High, narrow palate Small hand Truncus arteriosus Triangular face Broad nasal tip Sudden cardiac death Breathing dysregulation Short metacarpal Febrile seizures Hypoplasia of dental enamel Double outlet right ventricle Short phalanx of finger Cardiac arrest Bilateral single transverse palmar creases Scapular winging Abnormal palate morphology Reduced tendon reflexes Oligodontia Ventricular arrhythmia Growth abnormality Short metatarsal Myotonia 2-3 toe syndactyly Tetraplegia Prolonged QT interval Short distal phalanx of finger Urinary bladder sphincter dysfunction Aphasia Clubbing Stroke Tachycardia Atrial fibrillation Paroxysmal atrial fibrillation Thromboembolic stroke Cryptorchidism Anemia Heart murmur Intrauterine growth retardation Ventricular septal defect Respiratory distress Congestive heart failure Abnormality of cardiovascular system morphology Patent ductus arteriosus Dysfunction of lateral corticospinal tracts Abnormal heart morphology Easy fatigability Recurrent respiratory infections Proptosis Dyspnea Increased body weight Respiratory tract infection Paralysis Abnormal cardiac septum morphology Pulmonic stenosis Endocarditis Cyanosis Tetralogy of Fallot Ventricular hypertrophy Fever Chorioretinal dystrophy Restlessness Delayed skeletal maturation Hemiparesis Facial hypotonia Shuffling gait Sensory ataxia Lower limb amyotrophy Low frustration tolerance Functional abnormality of the bladder Functional abnormality of the gastrointestinal tract Motor aphasia Abnormality of the hallux Cataract Gait disturbance Vomiting Hernia Pulmonary artery atresia Shallow acetabular fossae Paraparesis Right ventricular failure Abnormality of pelvic girdle bone morphology Overriding aorta Generalized amyotrophy Hiatus hernia Short 5th finger Underdeveloped supraorbital ridges Motor polyneuropathy Polycythemia Preauricular pit Abnormal nasal morphology Carpal bone hypoplasia Abnormal upper motor neuron morphology Gastroesophageal reflux Impaired smooth pursuit Toe syndactyly Suicidal ideation Premature loss of teeth Dysuria Abnormality of the thumb Spastic dysarthria Speech apraxia Upper limb spasticity Overbite Abnormality of the nares Abnormality of brain morphology Abnormal hand morphology Knee clonus Panic attack Narrow jaw Morphea Scleroderma Hyperextensible hand joints Hyperplasia of midface Cardiomyopathy Myopathy Supraventricular arrhythmia Aplasia of the middle phalanx of the hand Distal symphalangism of hands Abnormal electrophysiology of sinoatrial node origin Pain Kyphosis Arthralgia Joint stiffness Platyspondyly Waddling gait Ankle contracture Ankle clonus Coxa valga Joint hypermobility Generalized hypotonia Microcephaly Failure to thrive Delayed speech and language development Epicanthus Downslanted palpebral fissures Frontal bossing Anteverted nares Midface retrusion Pectus excavatum Constipation Hydronephrosis Anxiety Camptodactyly Short foot Spastic diplegia Sleep disturbance Gliosis Prominent nose Overgrowth Psychosis Progressive muscle weakness Hallucinations Spastic gait Clonus Hoarse voice Drooling Slurred speech Abnormality of the hand Emotional lability Osteoarthritis Short long bone Joint laxity Impaired tactile sensation Impotence Progressive spastic paraplegia Impaired vibration sensation in the lower limbs Arachnoid cyst Progressive gait ataxia Demyelinating peripheral neuropathy Absent Achilles reflex Upper motor neuron dysfunction Spastic ataxia Decreased number of large peripheral myelinated nerve fibers Scanning speech Gaze-evoked horizontal nystagmus Decreased sensory nerve conduction velocity Vitamin E deficiency Loss of Purkinje cells in the cerebellar vermis Cone-shaped epiphysis 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 Micrognathia Abnormal facial shape Malar flattening Depressivity Elevated serum creatine phosphokinase Retrognathia Thin upper lip vermilion Decreased motor nerve conduction velocity Decreased nerve conduction velocity Back pain Mild myopia Metaphyseal irregularity Spondyloepiphyseal dysplasia Flared metaphysis Vertebral fusion Abnormal joint morphology Spinal canal stenosis Irregular vertebral endplates Trismus Beaking of vertebral bodies Hypoplastic pelvis Hypoplastic ilia Stiff neck Thoracolumbar kyphosis Hip pain Seizures Absence seizures Hypoplasia of the corpus callosum Myoclonus EEG abnormality Distal muscle weakness Abnormal pyramidal sign Peripheral axonal neuropathy Falls Distal sensory impairment Progressive cerebellar ataxia Mitral valve prolapse Cerebellar vermis hypoplasia Intention tremor Sensorimotor neuropathy Foot dorsiflexor weakness Absence of the pulmonary valve



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Short neck, related diseases and genetic alterations Autoimmunity and Basal cell carcinoma, related diseases and genetic alterations Brachydactyly and Hip dysplasia, related diseases and genetic alterations Myopathy and Psychosis, related diseases and genetic alterations Cardiomyopathy and Erythema, related diseases and genetic alterations Cleft palate and Retinal dystrophy, related diseases and genetic alterations

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