Motor delay, and Protruding ear

Diseases related with Motor delay and Protruding ear

In the following list you will find some of the most common rare diseases related to Motor delay and Protruding ear that can help you solving undiagnosed cases.


Top matches:

High match BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

High match OSTEOGENESIS IMPERFECTA, TYPE XII; OI12


Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

High match BETHLEM MYOPATHY 1; BTHLM1


BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

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Other less relevant matches:

High match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

High match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

High match OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13


Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.

OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 Is also known as oi, type xiii

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Pain


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13

High match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

High match CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME


Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

High match BETHLEM MYOPATHY


Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Top 5 symptoms//phenotypes associated to Motor delay and Protruding ear

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Motor delay and Protruding ear. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Talipes equinovarus Neonatal hypotonia Failure to thrive Muscle weakness Global developmental delay Myopathy Prominent forehead Cryptorchidism Sensorineural hearing impairment Abnormal facial shape Skeletal muscle atrophy Long philtrum Inguinal hernia Respiratory insufficiency due to muscle weakness Generalized muscle weakness Narrow mouth Seizures Growth delay Spasticity Proximal muscle weakness Feeding difficulties Kyphoscoliosis Intellectual disability, severe Scarring

Rare Symptoms - Less than 30% cases


Hyperkeratosis Rigidity Congenital muscular dystrophy Kyphosis Cardiomyopathy Congenital contracture Limb-girdle muscular dystrophy Ankle contracture Torticollis Distal muscle weakness Congenital hip dislocation Camptodactyly of finger Respiratory failure Muscular dystrophy Progressive muscle weakness Respiratory insufficiency Follicular hyperkeratosis Facial palsy Generalized amyotrophy Difficulty climbing stairs Feeding difficulties in infancy Round face Bifid uvula Thin vermilion border Type 1 muscle fiber predominance Deeply set eye Agenesis of corpus callosum Joint laxity Delayed speech and language development Hypertelorism Microcephaly Delayed gross motor development Strabismus Blue sclerae Joint hypermobility Arachnodactyly Telecanthus Hernia Long face Coarse facial features Pain Cerebral cortical atrophy Difficulty walking Abnormally large globe Increased bone mineral density Osteoporosis Micrognathia Triangular face Small for gestational age Pectus carinatum Platyspondyly Dentinogenesis imperfecta Midface retrusion Recurrent fractures Wormian bones Prominent supraorbital ridges Increased susceptibility to fractures Lissencephaly Muscular hypotonia Hearing impairment Depressed nasal bridge EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Umbilical hernia Spinal rigidity Progressive proximal muscle weakness Axial muscle weakness Mildly elevated creatine phosphokinase Broad forehead EMG abnormality Multiple joint contractures Increased variability in muscle fiber diameter Abnormality of mitochondrial metabolism Single transverse palmar crease Cachexia Decreased body weight Pachygyria Growth hormone deficiency Hip dislocation Long eyelashes Long palpebral fissure Dislocated radial head Recurrent lower respiratory tract infections Long fingers Facial diplegia Dysphonia Increased laxity of fingers Hyperextensibility at wrists Hyperlordosis Ophthalmoplegia Impaired mastication Waddling gait Left ventricular hypertrophy Scapular winging External ophthalmoplegia EMG: myopathic abnormalities Bilateral ptosis Difficulty running Gowers sign Ophthalmoparesis Nocturnal hypoventilation Muscle fiber necrosis Slender build Vertebral compression fractures Exertional dyspnea Abnormal heart valve morphology Proximal amyotrophy Centrally nucleated skeletal muscle fibers Hip contracture Osteomalacia Nystagmus Enuresis Synophrys Thick vermilion border Neurodegeneration Prominent nose Dandy-Walker malformation Spastic tetraplegia Cerebral calcification Tetraplegia Tapered finger Hirsutism Retrognathia Narrow face Aggressive behavior Pointed chin Self-injurious behavior Severe global developmental delay Hyperactivity Aplasia/Hypoplasia of the cerebellum Hypospadias Basal ganglia calcification Optic atrophy Visual impairment High-frequency hearing impairment Abnormality of the basal ganglia Wide mouth Abnormality of the genital system Enuresis nocturna Cerebellar hypoplasia Joint stiffness Angulated humerus Hyperhidrosis Hyperreflexia Macrocephaly Hyperconvex nail Ventriculomegaly Broad alveolar ridges Limb joint contracture Hydrocephalus Abnormal hair pattern Renal dysplasia Dementia Infantile spasms Gait ataxia Abnormality of the hip bone Overlapping toe Mandibular prognathia Renal hypoplasia/aplasia High forehead Intellectual disability, progressive Generalized hirsutism Low anterior hairline Choreoathetosis Epicanthus Dyspnea Facial asymmetry Increased urinary potassium Hypochloremia Fetal polyuria Hyperchloriduria Global glomerulosclerosis Hypochloremic metabolic alkalosis Hypokalemic hypochloremic metabolic alkalosis Reduced renal corticomedullary differentiation Malar flattening Abnormality of cardiovascular system morphology Osteopenia Delayed eruption of teeth Hypernatriuria Progressive hearing impairment Mixed hearing impairment Generalized osteoporosis Thoracic platyspondyly Abnormality of the skeletal system Respiratory distress Elevated serum creatine phosphokinase Paralysis Papule Abnormality of the cardiovascular system Decreased fetal movement Elbow flexion contracture Mesangial hypercellularity Hypokalemic metabolic alkalosis Abnormality of the mitochondrion Nephrocalcinosis Fatigue Edema Renal insufficiency Hyporeflexia Polyhydramnios Stage 5 chronic kidney disease Postural instability Premature birth Dehydration Nephrolithiasis Hydrops fetalis Hypokalemia Hypokalemic alkalosis Hypercalciuria Glomerulosclerosis Polydipsia Hyponatremia Congenital sensorineural hearing impairment Polyuria Hyperaldosteronism Renal salt wasting Alkalosis Metabolic alkalosis Tubulointerstitial fibrosis Decreased glomerular filtration rate Limb-girdle muscle weakness Diaphragmatic paralysis Pes cavus Microretrognathia Muscular hypotonia of the trunk Abnormality of the pinna Short philtrum Neurological speech impairment Smooth philtrum Wide nose Downturned corners of mouth Highly arched eyebrow Wide intermamillary distance Short palpebral fissure Absence seizures Widely spaced teeth Absent speech Long nose Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Prominent nasal tip Long upper lip Ptosis Cognitive impairment Dysarthria Congestive heart failure Intellectual disability, mild Areflexia Thin upper lip vermilion Short nose Congenital muscular torticollis Mitral valve prolapse Limb-girdle muscle atrophy Necrotizing myopathy Plantar flexion contractures Downslanted palpebral fissures Frontal bossing Cerebral atrophy Brachycephaly Arthralgia Myalgia Camptodactyly Talipes Bruising susceptibility Mitral regurgitation Dystonia Dental crowding Joint dislocation Adducted thumb Hyperextensible skin Patent foramen ovale Bilateral talipes equinovarus Fragile skin Facial hypotonia Hypoplasia of the musculature Cleft palate Low-set ears Hypoplasia of the corpus callosum Increased laxity of ankles



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