Epicanthus, and Gait disturbance

Diseases related with Epicanthus and Gait disturbance

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


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Low match TRISOMY XQ28


Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.

TRISOMY XQ28 Is also known as distal duplication xq|telomeric duplication xq

Related symptoms:

  • Global developmental delay
  • Short stature
  • Cryptorchidism
  • Ptosis
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about TRISOMY XQ28

Low match MYOTONIA PERMANENS


Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Epicanthus
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about MYOTONIA PERMANENS

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Other less relevant matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64


Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34

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, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Low match METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA


Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA Is also known as spondyloenchondromatosis with d-2-hydroxyglutaric aciduria|metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Low match RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Top 5 symptoms//phenotypes associated to Epicanthus and Gait disturbance

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

Patients with Epicanthus and Gait disturbance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Hypertelorism Absent speech Short stature Postnatal microcephaly Hypertonia Delayed ability to walk Stereotypy Feeding difficulties Strabismus Inability to walk

Rare Symptoms - Less than 30% cases


Hypotelorism Ventriculomegaly Asthma Low-set ears Ataxia Bruxism Micrognathia Myopathic facies Depressed nasal bridge Dystonia Pes planus Thin upper lip vermilion Developmental regression Generalized tonic-clonic seizures Smooth philtrum Chorea Delayed myelination Short palpebral fissure Oligohydramnios Hearing impairment Synophrys Gait ataxia High palate Aggressive behavior Hyperactivity Anxiety Hyperlordosis Attention deficit hyperactivity disorder Cerebellar atrophy Ptosis Everted lower lip vermilion Cryptorchidism Joint laxity Spasticity Tapered finger Scoliosis Dilatation Macrocephaly Alopecia Obsessive-compulsive behavior Eosinophilia Thin eyebrow Abnormality of the pinna Oligodontia Underdeveloped nasal alae Self-injurious behavior Thick lower lip vermilion Abnormal cerebellum morphology Failure to thrive Thick vermilion border Behavioral abnormality Constipation Autism Pectus carinatum Gastroesophageal reflux Short palm Autistic behavior Short philtrum Wide mouth Genu valgum D-2-hydroxyglutaric aciduria Aciduria Abnormality of female internal genitalia Abnormality of the genitourinary system Polycystic kidney dysplasia Unilateral renal agenesis Tracheoesophageal fistula Non-midline cleft lip Breech presentation Bicornuate uterus Vaginal atresia Bilateral renal agenesis Multicystic kidney dysplasia Abnormal sacrum morphology Bilateral renal hypoplasia Nonketotic hypoglycemia Urogenital fistula Potter facies Urethral obstruction Sirenomelia Bilateral renal dysplasia Abnormal intestine morphology Renal dysplasia Waddling gait Talipes equinovarus Rhizomelia Thoracic scoliosis Irregular vertebral endplates Thoracolumbar scoliosis Cavum septum pellucidum Abnormality of dental eruption Cleft palate Hypertension Abnormality of cardiovascular system morphology Depressed nasal ridge Retrognathia Proteinuria Abnormality of the kidney Talipes Falls Pulmonary hypoplasia Renal agenesis Renal hypoplasia Primary amenorrhea Narrow palpebral fissure Low frustration tolerance Hypsarrhythmia Ophthalmoparesis Muscle cramps Chest pain Limitation of joint mobility EMG abnormality Abnormality of the voice Myotonia Skeletal muscle hypertrophy Myalgia Generalized muscle hypertrophy Cognitive impairment Hypoplasia of the corpus callosum Encephalopathy Cerebellar hypoplasia Cerebral cortical atrophy Ophthalmoplegia Dyspnea Focal-onset seizure Joint stiffness EEG abnormality Myoclonus Intellectual disability, severe Hypospadias Pectus excavatum Delayed skeletal maturation Blepharophimosis Downslanted palpebral fissures Neurological speech impairment Severe global developmental delay Tented upper lip vermilion Abnormality of chromosome segregation Hernia of the abdominal wall Muscle weakness Dysphagia Macrotia Febrile seizures Microdontia Abnormality of the dentition Curly hair Cerebral atrophy Joint hypermobility Involuntary movements Delayed speech and language development Myopia Long philtrum Bilateral ptosis Immunodeficiency Recurrent infections Narrow mouth Hypermetropia Unsteady gait Hypodontia Prominent nose 2-3 toe syndactyly Coarse hair Epileptic encephalopathy Syndactyly Status epilepticus Hemiparesis Limb hypertonia Muscular hypotonia Visual impairment Anteverted nares Upslanted palpebral fissure Drooling Muscular hypotonia of the trunk Toe syndactyly Short foot Wide intermamillary distance Broad-based gait Cerebral visual impairment Widely spaced teeth Fetal polyuria



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