Brachydactyly, and Limb-girdle muscular dystrophy

Diseases related with Brachydactyly and Limb-girdle muscular dystrophy

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


Top matches:

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match MARINESCO-SJÖGREN SYNDROME


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

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA


Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

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Low match FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R


Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R Is also known as autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|lgmd2r

Related symptoms:

  • Muscular dystrophy


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R

Low match ATYPICAL RETT SYNDROME


Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

ATYPICAL RETT SYNDROME Is also known as atypical rtt|rett syndrome variant|autism, dementia, ataxia, and loss of purposeful hand use|rts

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL RETT SYNDROME

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2N


Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2N Is also known as muscular dystrophy, limb-girdle, autosomal recessive 14|lgmd2n|muscular dystrophy, limb-girdle, type 2n|lgmdr14|muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related

Related symptoms:

  • Muscle weakness
  • Motor delay
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2N

Low match INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3


INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3 Is also known as multisystem proteinopathy 3|msp3

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness


SOURCES: OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3

Low match MIYOSHI MUSCULAR DYSTROPHY 1; MMD1


Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. Patients showed impaired tiptoe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986). Genetic Heterogeneity of Miyoshi Muscular DystrophyMiyoshi muscular dystrophy is a genetically heterogeneous disorder: MMD2 (OMIM ) has been mapped to chromosome 10p, and MMD3 (OMIM ) is caused by mutation in the ANO5 gene (OMIM ) on chromosome 11p14.See also Welander myopathy (OMIM ), an autosomal dominant form of late-onset distal myopathy.

MIYOSHI MUSCULAR DYSTROPHY 1; MMD1 Is also known as muscular dystrophy, distal, late-onset, autosomal recessive|miyoshi myopathy

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Difficulty walking


SOURCES: OMIM MENDELIAN

More info about MIYOSHI MUSCULAR DYSTROPHY 1; MMD1

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O


Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O Is also known as lgmdr15|muscular dystrophy, limb-girdle, type 2o|muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related|lgmd2o|muscular dystrophy, limb-girdle, autosomal recessive 15

Related symptoms:

  • Muscle weakness
  • Motor delay
  • Myopia
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O

Top 5 symptoms//phenotypes associated to Brachydactyly and Limb-girdle muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Limb-girdle muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Proximal muscle weakness Skeletal muscle atrophy Paralysis Hearing impairment Generalized hypotonia Seizures Rigidity Intellectual disability High palate Rimmed vacuoles Pain Ataxia Global developmental delay

Rare Symptoms - Less than 30% cases


Encephalopathy Scoliosis Motor delay Kyphosis Joint stiffness Microcephaly Strabismus Intellectual disability, severe Gait ataxia Abnormal facial shape Muscular hypotonia Cataract Spasticity Abnormality of the skeletal system Flexion contracture Muscle fiber necrosis Kyphoscoliosis Progressive encephalopathy Skeletal muscle hypertrophy Hypospadias Cerebral cortical atrophy Congenital muscular dystrophy Accelerated skeletal maturation Myalgia Mental deterioration Centrally nucleated skeletal muscle fibers Difficulty climbing stairs Severe short stature Abnormality of the metacarpal bones Growth delay Fatigue Lumbar hyperlordosis Hyperlordosis Abnormality of the dentition Short thumb Mildly elevated creatine phosphokinase Exostoses Disproportionate short stature Proportionate short stature Limited elbow extension Joint swelling Abnormality of tibia morphology Abnormality of skeletal physiology Abnormality of the knee Dystonia Autism Hyperactivity Dementia Constipation Clinodactyly of the 5th finger Long philtrum Intellectual disability, mild Atrial septal defect Low back pain Ventriculomegaly Tremor Cryptorchidism Quadriceps muscle atrophy Limited elbow flexion Decreased hip abduction Osteochondritis Dissecans Broad hallux Frontal bossing Mild short stature Breast aplasia Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Bird-like facies Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Hematemesis Wide cranial sutures Increased adipose tissue around the neck Generalized lipodystrophy Narrow nasal ridge Broad distal phalanx of finger Hypoplasia of teeth Prominent superficial veins Calcinosis Vertebral compression fractures Aplasia/Hypoplasia of the clavicles Thin clavicles Back pain Midface retrusion Growth abnormality Osteoarthritis Waddling gait Arthritis Arthralgia Skeletal dysplasia Delayed skeletal maturation Gait disturbance Foot pain Depressed nasal bridge Stiff elbow Foamy urine Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Gastroesophageal reflux Short foot Coarse facial features Respiratory alkalosis Calf muscle hypertrophy Gait apraxia Hypocapnia Nonprogressive encephalopathy Intermittent hyperventilation Abnormality of the antitragus Short distal phalanx of the thumb Bundle branch block Abnormal muscle tone Prolonged QTc interval Esodeviation Abnormal T-wave Astrocytosis Motor deterioration Developmental stagnation Right bundle branch block Cognitive impairment Bruxism Inflammatory myopathy Gowers sign Limb muscle weakness Myopia Deposits immunoreactive to beta-amyloid protein Decreased Achilles reflex Decreased/absent ankle reflexes Muscle fibrillation Elevated alkaline phosphatase Toe walking Distal amyotrophy Lower limb muscle weakness Distal muscle weakness Difficulty walking Abnormality of the abdominal musculature Muscle fiber inclusion bodies Alkalosis Hyperventilation EEG abnormality Camptodactyly of finger Thick vermilion border Inability to walk Wide nose Confusion Abnormality of movement Attention deficit hyperactivity disorder Wide mouth Underdeveloped nasal alae Autistic behavior Developmental regression Apnea Muscular hypotonia of the trunk Aggressive behavior Abnormality of the nervous system Anxiety Progeroid facial appearance Generalized-onset seizure Loss of speech Abnormality of the fingernails Overweight Thoracic scoliosis Prolonged QT interval Alzheimer disease Aplasia/Hypoplasia of the cerebellum Cachexia Cerebral palsy Spastic paraparesis Apraxia Paraparesis Truncal ataxia Nephrolithiasis Postnatal microcephaly Progressive neurologic deterioration Fine hair Intellectual disability, profound Osteolytic defects of the phalanges of the hand Osteolysis Down-sloping shoulders Intellectual disability, moderate Smooth philtrum Synophrys Congenital cataract Hip dislocation Neurological speech impairment Pectus carinatum Deeply set eye Dyskinesia Pes planus Hypogonadism Cerebellar hypoplasia Hyporeflexia Areflexia Recurrent infections Cerebral atrophy Short palm Microcornea Cerebellar atrophy Hypergonadotropic hypogonadism Dysphonia Infantile muscular hypotonia Sandal gap Type I diabetes mellitus Coxa valga Muscle stiffness Sensorimotor neuropathy Progressive cerebellar ataxia Limb ataxia Progressive muscle weakness Hypertrichosis Specific learning disability Hip dysplasia Decreased antibody level in blood Short metacarpal Hypertonia Optic atrophy Cubitus valgus Retinal dystrophy Hyperbilirubinemia Exercise intolerance Tetraparesis Migraine Muscle cramps Hemolytic anemia Hepatosplenomegaly Spastic tetraparesis Jaundice Rod-cone dystrophy Visual loss Renal insufficiency Splenomegaly Delayed speech and language development Anemia Purpura Hemiplegia Dysarthria Exercise-induced muscle cramps Peripheral neuropathy Epicanthus Ptosis Failure to thrive Nystagmus Exercise-induced myoglobinuria Recurrent myoglobinuria Emotional lability Increased muscle fatiguability Decreased mean corpuscular volume Myoglobinuria Reticulocytosis Acute kidney injury Rhabdomyolysis Aphasia Short metatarsal Myopathic facies Narrow nose Insulin resistance Hyperlipidemia Atherosclerosis Acanthosis nigricans Wormian bones Increased body weight Hyperpigmentation of the skin Dental crowding Lipodystrophy Large fontanelles Thin skin Sparse scalp hair Hypertriglyceridemia Epidermal acanthosis Nephrotic syndrome Abnormality of the cardiovascular system Dermal atrophy Hyperinsulinemia Abnormality of the skin Reduced subcutaneous adipose tissue Insulin-resistant diabetes mellitus Premature loss of teeth Short clavicles Arthropathy Prematurely aged appearance Spinal rigidity Hypermelanotic macule Glomerulosclerosis Delayed cranial suture closure High pitched voice Glucose intolerance Focal segmental glomerulosclerosis Hyperostosis Hyperglycemia Absent eyebrow Convex nasal ridge Dental malocclusion External genital hypoplasia Cerebellar cortical atrophy Hypertension Micrognathia Neoplasm Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Metatarsus valgus Short nose Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Muscle flaccidity Autophagic vacuoles Avascular necrosis of the capital femoral epiphysis Mild global developmental delay Abnormality of finger Edema Alopecia Round face Scarring Full cheeks Sepsis Short distal phalanx of finger Abnormality of skin pigmentation Delayed puberty Hypotrichosis Nail dystrophy Sparse hair Osteoporosis Postnatal growth retardation Abnormality of the kidney Retrognathia Proptosis Narrow mouth Hyperkeratosis Diabetes mellitus Generalized amyotrophy



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