Low-set ears, and Gait disturbance

Diseases related with Low-set ears and Gait disturbance

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


Top matches:

Medium match MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE


Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

Low match AL-RAQAD SYNDROME; ARS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

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Other less relevant matches:

Low match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Low match VERVERI-BRADY SYNDROME; VERBRAS


Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Low match INTERMEDIATE NEMALINE MYOPATHY


Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Related symptoms:

  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about INTERMEDIATE NEMALINE MYOPATHY

Low match MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Low match NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL


NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61


MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Top 5 symptoms//phenotypes associated to Low-set ears and Gait disturbance

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Low-set ears and Gait disturbance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Seizures Hypertelorism High palate Motor delay Thin upper lip vermilion Unsteady gait Absent speech Ptosis Spasticity Broad-based gait Tapered finger Short stature Scoliosis Wide mouth Feeding difficulties Wide nasal bridge

Rare Symptoms - Less than 30% cases


Synophrys Brachydactyly Neonatal hypotonia Joint laxity Aggressive behavior Frequent falls Inability to walk Prominent nose Autism Ataxia Small hand Everted lower lip vermilion Delayed ability to walk Chorea Strabismus Hyperactivity Posteriorly rotated ears Flexion contracture Falls Gait ataxia Autistic behavior Growth delay Severe muscular hypotonia Pain Babinski sign Failure to thrive Decreased fetal movement Deeply set eye Anxiety Generalized muscle weakness Wide nose Arthrogryposis multiplex congenita Mandibular prognathia Dysarthria Tremor Hypoplasia of the corpus callosum Encephalopathy Hyperreflexia Postnatal microcephaly Long face Narrow forehead Difficulty walking Fatigable weakness Easy fatigability Cerebellar atrophy Multiple prenatal fractures Micrognathia Ventriculomegaly Epicanthus Muscle weakness Dystonia Respiratory insufficiency Multiple joint contractures Prominent occiput Narrow palpebral fissure Hearing impairment Respiratory distress Dental malocclusion Apnea Poor suck Weak cry Respiratory tract infection Gowers sign Muscular hypotonia of the trunk Cerebral atrophy Constipation Myopia Fever Anteverted nares Atrial septal defect Vomiting Behavioral abnormality Gastroesophageal reflux Progressive microcephaly Low-set, posteriorly rotated ears Hyperlordosis Attention deficit hyperactivity disorder Broad forehead Hypermetropia Short foot Small nail Decreased muscle mass Long eyelashes Pes planus Pes cavus Joint hypermobility Delayed myelination Involuntary movements Bruxism Low frustration tolerance Talipes equinovarus EEG abnormality Hypsarrhythmia Nemaline bodies Dolichocephaly Talipes Bulbous nose Thick eyebrow Highly arched eyebrow Brain atrophy Type 1 muscle fiber predominance Broad nasal tip Facial diplegia Progressive spasticity Toe syndactyly Clinodactyly Syndactyly Visual impairment Cognitive impairment Hyperplasia of the maxilla Sandal gap Hypopigmentation of the skin Flat face Abnormal cardiac septum morphology Narrow mouth Short nose Nasogastric tube feeding in infancy Abnormal CNS myelination Drooling Progressive cerebellar ataxia Poor speech Depressed nasal bridge Intellectual disability, severe Malar flattening Severe short stature Prominent forehead Short philtrum Thick vermilion border Hypotelorism Triangular face Decreased body weight Widely spaced teeth Spastic paraplegia Generalized tonic-clonic seizures Febrile seizures Dysmetria Epileptic encephalopathy Hypokinesia Skeletal muscle atrophy Myopathic facies Abnormality of the thorax EMG: myopathic abnormalities Premature birth High, narrow palate Ophthalmoplegia Facial palsy Polyhydramnios Respiratory failure Hyporeflexia Areflexia Long philtrum Cardiomyopathy Dysphagia Impaired social interactions Generalized-onset seizure Intellectual disability, mild Diplopia Cerebral visual impairment Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Intrauterine growth retardation Elevated serum creatine phosphokinase Mildly elevated creatine phosphokinase Upslanted palpebral fissure Brachycephaly Abnormality of the nervous system Smooth philtrum Intention tremor Cupped ear Obsessive-compulsive behavior



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