Brachydactyly, and Distal muscle weakness

Diseases related with Brachydactyly and Distal muscle weakness

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


Top 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 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

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Other less relevant matches:

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

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

Low match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Low match MOEBIUS SYNDROME


Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MOEBIUS SYNDROME

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 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Distal muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Clinodactyly Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the foot Short stature Difficulty walking Motor delay Syndactyly Distal amyotrophy Gait ataxia Flexion contracture Pes cavus Limb muscle weakness Arrhythmia Dysphagia Clinodactyly of the 5th finger Dysarthria Low-set ears Cleft palate

Rare Symptoms - Less than 30% cases


Abnormal atrioventricular conduction Upper limb muscle weakness Kyphoscoliosis Intellectual disability Syncope Dilated cardiomyopathy Myopathy Spastic diplegia Ventricular tachycardia Stroke Pectus excavatum Genu valgum Abnormal heart morphology Specific learning disability Thin vermilion border Micrognathia Epicanthus Global developmental delay Right ventricular failure Seizures Right ventricular hypertrophy Ventricular hypertrophy Pulmonic stenosis Growth delay Dolichocephaly Broad forehead Abnormal cardiac septum morphology Hypertelorism Visual impairment Cognitive impairment Congestive heart failure Ventricular septal defect Kyphosis Ventricular extrasystoles Cerebellar vermis atrophy Abnormality of the skeletal system Spasticity Spastic paraplegia Paraplegia Dysmetria Ataxia Unsteady gait Hyperreflexia Abnormal cerebellum morphology Babinski sign Distal sensory impairment Behavioral abnormality Cerebellar atrophy Impaired vibratory sensation Hammertoe Lower limb spasticity Narrow jaw Panic attack Absent hand Abnormality of the sense of smell Breast aplasia Aplasia/Hypoplasia involving the metacarpal bones Aplasia/Hypoplasia of the tongue Suicidal ideation Drooling Aplasia of the pectoralis major muscle Joint laxity Small hand High, narrow palate Wide nose Short palm Bulbous nose Toe syndactyly Thin upper lip vermilion Knee clonus Abnormal hand morphology Retrognathia Elevated serum creatine phosphokinase Depressivity Malar flattening Abnormal facial shape Blepharitis Abnormality of the ulna Mask-like facies Aplasia/Hypoplasia of the radius Portal vein thrombosis Muscular hypotonia Strabismus Right atrial enlargement Calcinosis cutis Chronic hepatic failure Cutis marmorata telangiectatica congenita Prominent scalp veins Hypersplenism High palate Cavernous hemangioma Aplasia cutis congenita of scalp Esophageal varix Prominent superficial veins Calcinosis Dystrophic toenail Progressive proximal muscle weakness Oligodactyly Ptosis Hyperextensible hand joints Aplasia/Hypoplasia of the thumb Microdontia Multiple cafe-au-lait spots Triangular face Abnormality of the voice Reduced number of teeth Cranial nerve paralysis Hypogonadotrophic hypogonadism Open mouth Everted lower lip vermilion Talipes equinovarus Ophthalmoplegia Arthrogryposis multiplex congenita Morphea Corneal opacity Finger syndactyly Feeding difficulties in infancy Facial palsy Autism Hypoplasia of the maxilla Febrile seizures Broad nasal tip Generalized hypotonia Frontal bossing Downslanted palpebral fissures Slurred speech Abnormality of the hand Delayed speech and language development Failure to thrive Microcephaly Aplasia/Hypoplasia of the maxilla Intellectual disability, mild Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Short mandibular rami Anteverted nares Midface retrusion Clinodactyly of the 5th toe Overgrowth Hoarse voice Clonus Spastic gait Hallucinations Progressive muscle weakness Choreoathetosis Psychosis Prominent nose Constipation Gliosis Sleep disturbance Short foot Joint hypermobility Lower limb muscle weakness Camptodactyly Anxiety Hydronephrosis Short digit First degree atrioventricular block Sudden cardiac death Abnormal palate morphology Abnormality of the nares Myotonia Short metatarsal Growth abnormality Ventricular arrhythmia Oligodontia Reduced tendon reflexes Scapular winging Overbite Bilateral single transverse palmar creases Cardiac arrest Short phalanx of finger Hypoplasia of dental enamel Palpitations Abnormality of brain morphology Spastic paraparesis Short metacarpal 2-3 toe syndactyly Mood swings Delayed eruption of permanent teeth T-wave inversion Periodic paralysis Abnormal T-wave Torsade de pointes Emotional lability Ankle clonus Scleroderma Ankle contracture Premature loss of teeth Upper limb spasticity Left bundle branch block Dysuria Abnormality of the thumb Short finger Prolonged QT interval Spastic dysarthria Right bundle branch block Speech apraxia Aplasia cutis congenita Pulmonary artery atresia Abnormality of the coagulation cascade Visual loss Joint contracture of the hand Short thumb Broad-based gait Peripheral demyelination Sensory impairment Sensory neuropathy Areflexia Gait disturbance Language impairment Tremor Optic atrophy Swan neck-like deformities of the fingers Progressive truncal ataxia Abnormality of the cerebellar peduncle Hypermyelinated retinal nerve fibers Abnormal motor evoked potentials Paraparesis Skeletal muscle hypertrophy Parietal cortical atrophy Atrial fibrillation Abnormal electrophysiology of sinoatrial node origin Distal symphalangism of hands Aplasia of the middle phalanx of the hand Supraventricular arrhythmia Cardiomyopathy Thromboembolic stroke Paroxysmal atrial fibrillation Tachycardia Progressive sensorineural hearing impairment Distal upper limb amyotrophy Positive Romberg sign Abnormality of peripheral nerve conduction Ulnar deviation of the hand Excessive daytime somnolence Thoracic scoliosis Impaired pain sensation Abnormality of the pons Loss of Purkinje cells in the cerebellar vermis Myopia Progressive cerebellar ataxia Absence seizures Foot dorsiflexor weakness Sensorimotor neuropathy Intention tremor Cerebellar vermis hypoplasia Mitral valve prolapse Urinary incontinence Falls Cone-shaped epiphysis Peripheral axonal neuropathy Abnormal pyramidal sign EEG abnormality Myoclonus Hypoplasia of the corpus callosum Peripheral neuropathy Nystagmus Decreased nerve conduction velocity Decreased motor nerve conduction velocity Impaired tactile sensation Absent Achilles reflex Vitamin E deficiency Decreased sensory nerve conduction velocity Gaze-evoked horizontal nystagmus Scanning speech Decreased number of large peripheral myelinated nerve fibers Spastic ataxia Upper motor neuron dysfunction Demyelinating peripheral neuropathy Impotence Impaired smooth pursuit Progressive gait ataxia Arachnoid cyst Impaired vibration sensation in the lower limbs Progressive spastic paraplegia Progressive spasticity Urinary urgency Pain Arthralgia Cutis marmorata Interrupted aortic arch Hypertension Absence of the pulmonary valve Tetralogy of Fallot with absent pulmonary valve Pulmonary valve atresia Overriding aorta Endocarditis Abnormal nasal morphology Breathing dysregulation Hernia Truncus arteriosus Double outlet right ventricle Hyperventilation Poor appetite Underdeveloped supraorbital ridges Polycythemia Preauricular pit Splenomegaly Encephalopathy Clubbing Hip dysplasia Portal hypertension Patent foramen ovale Ischemic stroke Hyperammonemia Small nail Pulmonary arterial hypertension Coarctation of aorta Ascites Inguinal hernia Hepatic failure Abnormality of the cerebral white matter Severe global developmental delay Attention deficit hyperactivity disorder Proximal muscle weakness Umbilical hernia Hyperactivity Heart murmur Easy fatigability Joint stiffness Flared metaphysis Hypoplastic pelvis Beaking of vertebral bodies Trismus Irregular vertebral endplates Spinal canal stenosis Abnormal joint morphology Vertebral fusion Spondyloepiphyseal dysplasia Stiff neck Metaphyseal irregularity Back pain Short long bone Coxa valga Osteoarthritis Waddling gait Platyspondyly Hypoplastic ilia Thoracolumbar kyphosis Increased body weight Proptosis Sinusitis Hemiparesis Tetralogy of Fallot Cyanosis Paralysis Respiratory tract infection Dyspnea Recurrent respiratory infections Hip pain Patent ductus arteriosus Abnormality of cardiovascular system morphology Respiratory distress Intrauterine growth retardation Anemia Cryptorchidism Mild myopia Hyperplasia of midface



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