Low-set ears, and Limb-girdle muscular dystrophy

Diseases related with Low-set ears and Limb-girdle muscular dystrophy

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


Top matches:

High match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

High match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

High match GLYCEROL KINASE DEFICIENCY; GKD


Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

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Other less relevant matches:

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

High match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Medium match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Medium match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Medium match NEMALINE MYOPATHY 2; NEM2


Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

Medium match CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA


Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Medium match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Top 5 symptoms//phenotypes associated to Low-set ears and Limb-girdle muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Cryptorchidism Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Myopathy

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Micropenis

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Hypospadias Global developmental delay Scoliosis High palate Seizures Areflexia Decreased fetal movement Dandy-Walker malformation Intrauterine growth retardation Ventriculomegaly Hydrocephalus Arthrogryposis multiplex congenita Frontal bossing Muscle weakness Cataract Cerebellar hypoplasia Microphthalmia Muscular hypotonia Long philtrum Postnatal growth retardation Short stature Microcephaly Hydronephrosis Respiratory tract infection Congenital muscular dystrophy Intellectual disability, profound Posteriorly rotated ears Epicanthus Kyphosis Agenesis of corpus callosum Hypoplasia of the brainstem Downslanted palpebral fissures Short neck Ptosis Hypoplasia of the corpus callosum Kyphoscoliosis Elevated serum creatine phosphokinase Edema Midface retrusion Congenital contracture Strabismus Skeletal muscle atrophy Macrocephaly Respiratory insufficiency Feeding difficulties Motor delay Talipes equinovarus Polyhydramnios Encephalocele Myopathic facies Proximal muscle weakness Facial palsy

Rare Symptoms - Less than 30% cases


Congenital adrenal hypoplasia Distal arthrogryposis Retinal dysplasia Large fontanelles Heterotopia Type II lissencephaly Adrenal hypoplasia Pachygyria Mask-like facies Glaucoma Retinal detachment Optic nerve hypoplasia Adducted thumb Polymicrogyria Microtia Lissencephaly Retrognathia Peters anomaly Dilatation Agyria Myotonia Absent septum pellucidum Renal dysplasia Specific learning disability Bifid uvula Abnormality of the cerebellar vermis Hyporeflexia Intellectual disability, severe Aplasia/Hypoplasia involving the skeletal musculature Congenital ptosis Neonatal hypotonia Talipes Abnormality of the sternum Generalized muscle weakness Hydrops fetalis Remnants of the hyaloid vascular system Pterygium Webbed neck Akinesia Limb muscle weakness Pectus carinatum Hyperlordosis Cystic hygroma Fetal akinesia sequence Nemaline bodies Pectus excavatum Metabolic acidosis Type 1 muscle fiber predominance Bilateral cryptorchidism Pulmonary hypoplasia Adrenal insufficiency Hearing impairment Acidosis Clinodactyly Malar flattening Short nose Anteverted nares Depressed nasal bridge Anophthalmia Scrotal hypoplasia Small for gestational age Primary amenorrhea Iris coloboma Corneal opacity Coloboma Cleft lip Hypogonadism Inguinal hernia Feeding difficulties in infancy Micrognathia Submucous cleft hard palate Centrally nucleated skeletal muscle fibers Dysphagia 3-Methylglutaconic aciduria Abnormality of the upper urinary tract Colpocephaly Apnea Abnormality of the eye Distal muscle weakness Increased nuchal translucency Falls Restlessness Inability to walk Decreased muscle mass Difficulty running Waddling gait Frequent falls Primitive reflex Hydroureter Foot dorsiflexor weakness Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Dextrocardia Metatarsus adductus Radioulnar synostosis Pyloric stenosis Rocker bottom foot Multiple joint contractures Mildly elevated creatine phosphokinase Pericardial effusion Abnormality of the urinary system Renal hypoplasia/aplasia Dysarthria Epispadias Bulbar palsy Posterior fossa cyst Bilateral cleft lip Fixed facial expression Abnormal cortical gyration Abnormality of the optic nerve Inferior vermis hypoplasia Buphthalmos Aqueductal stenosis Exercise-induced myalgia Muscle fiber splitting Cerebellar dysplasia Shoulder girdle muscle weakness Axial muscle weakness Cerebellar cyst Excessive daytime sleepiness Meningoencephalocele Limb joint contracture Zollinger-Ellison syndrome Abnormal aldolase level Thick cerebral cortex Severe postnatal growth retardation Hypoplastic male external genitalia Abnormality of the penis Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Hypoglycosylation of alpha-dystroglycan Bell-shaped thorax Macrogyria Severe hydrocephalus Metatarsus valgus Facial diplegia Abnormal levels of creatine kinase in blood Multicystic kidney dysplasia Type 1 muscle fiber atrophy Megalocornea Aggressive behavior Arachnodactyly External ophthalmoplegia Minicore myopathy Attention deficit hyperactivity disorder Camptodactyly of finger Blepharophimosis Joint stiffness Single transverse palmar crease Abnormality of the pinna Aciduria Cyanosis Bradycardia Camptodactyly Abnormality of the kidney Narrow mouth Dolichocephaly Hyperactivity Severe short stature Abnormality of cardiovascular system morphology Ventricular septal defect Failure to thrive Type 1 and type 2 muscle fiber minicore regions Abnormal muscle morphology Sternocleidomastoid amyotrophy Frog-leg posture Narrow face Tibialis atrophy Rectus femoris muscle atrophy Muscle fiber hypertrophy Internally nucleated skeletal muscle fibers Ophthalmoplegia High, narrow palate Spinal rigidity Functional respiratory abnormality Situs inversus totalis Wide anterior fontanel Abnormality of the face EMG: neuropathic changes Abnormal form of the vertebral bodies Short palpebral fissure Renal hypoplasia Increased connective tissue Muscle fiber necrosis Interphalangeal joint contracture of finger Slender build Increased variability in muscle fiber diameter Abnormality of the rib cage Generalized limb muscle atrophy Peripheral demyelination Renal agenesis Late-onset distal muscle weakness Prominent nasal bridge Joint laxity Respiratory failure Recurrent respiratory infections Pneumonia Respiratory distress Mitochondrial depletion Neck flexor weakness Transient myeloproliferative syndrome Severe hydrops fetalis Calf muscle pseudohypertrophy Tented upper lip vermilion Multiple pterygia Hand clenching Joint contracture of the hand Hypotension Retinal atrophy Severe intrauterine growth retardation Triangular mouth Rhabdomyosarcoma Short sternum Mild microcephaly Acute leukemia Multiple renal cysts Acute lymphoblastic leukemia Premature chromatid separation Combined immunodeficiency Bifid scrotum Nephroblastoma Myelodysplasia Sarcoma Hyperpigmentation of the skin Ambiguous genitalia Cerebral hypoplasia Embryonal rhabdomyosarcoma Amenorrhea Hyperlipidemia Hyperglycerolemia Increased urinary glycerol Adrenocortical hypoplasia Episodic vomiting Ketoacidosis Pathologic fracture Loss of consciousness Hypertriglyceridemia Hypodysplasia of the corpus callosum Coma Downturned corners of mouth Lethargy Hypoglycemia Diabetes mellitus Osteoporosis Vomiting Oligohydramnios Generalized myoclonic seizures Partial agenesis of the corpus callosum Hypogonadotrophic hypogonadism Hyposmia Hypoplastic labia majora Agenesis of permanent teeth Preauricular pit Reduced number of teeth Anosmia Choanal atresia Hypoplasia of teeth Dental malocclusion Broad nasal tip Hypoplasia of the maxilla Delayed puberty Synophrys Hernia Visual impairment Lacrimation abnormality Diastema Renal cyst Immunodeficiency Wide nose Generalized tonic-clonic seizures Severe global developmental delay Leukemia High forehead Brachycephaly Upslanted palpebral fissure Wide nasal bridge Lacrimal duct stenosis Neoplasm Nystagmus Absent paranasal sinuses Aplasia of the nose Frontal encephalocele Aplasia/Hypoplasia involving the nose Abnormality of the sense of smell Deeply set eye Weak cry Occipital encephalocele Hyperphosphatemia Sinus tachycardia Long upper lip Diaphragmatic eventration Respiratory arrest Severe lactic acidosis Breech presentation Low hanging columella Myopia Thoracic kyphosis Malignant hyperthermia Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Hyperkalemia Mixed respiratory and metabolic acidosis Optic atrophy Ventricular fibrillation Retinal dystrophy Congenital glaucoma Abnormality of neuronal migration Atresia of the external auditory canal Severe muscular hypotonia Cerebellar vermis hypoplasia Hypoplasia of penis Microcornea Oral cleft Blindness Cleft upper lip Anal atresia Congenital cataract Abnormality of the cerebral white matter Retinopathy Protruding ear Proptosis Abnormality of the coagulation cascade Deep philtrum Gonadal dysgenesis Abnormality of the genital system Metaphyseal dysplasia Epiphyseal dysplasia Hypercalcemia Hypercalciuria Short long bone Nephrocalcinosis Hypocalcemia Bilateral sensorineural hearing impairment Metaphyseal cupping Growth hormone deficiency Micromelia Craniosynostosis Prominent forehead Delayed skeletal maturation Sensorineural hearing impairment Corpus callosum atrophy Primary adrenal insufficiency Fever Ventricular arrhythmia Tachycardia Tachypnea Shock Lymphedema Lumbar hyperlordosis Abnormal bleeding Muscle cramps Joint hypermobility Lactic acidosis Hypertonia Stroke Myalgia Rigidity Hyperhidrosis Pes cavus Arrhythmia Renal insufficiency Abnormal anatomic location of the heart



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Renal cell carcinoma, related diseases and genetic alterations Motor delay and Lower limb muscle weakness, related diseases and genetic alterations High palate and Encephalocele, related diseases and genetic alterations

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