Epicanthus, and Motor delay

Diseases related with Epicanthus and Motor delay

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

Top matches:

Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Motor delay
  • Epicanthus
  • Wide nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about BENIGN SAMARITAN CONGENITAL MYOPATHY

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Medium match PEHO-LIKE SYNDROME

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

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

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Top 5 symptoms//phenotypes associated to Epicanthus and Motor delay

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Absent speech Abnormal facial shape Low-set ears Recurrent infections Immunodeficiency Feeding difficulties Ventriculomegaly Cerebellar atrophy Depressed nasal bridge Delayed ability to walk High palate

Rare Symptoms - Less than 30% cases

Tapered finger Macrocephaly Frontal bossing Hypsarrhythmia Autistic behavior Growth delay Everted lower lip vermilion Short nose Retrognathia Polymicrogyria Hearing impairment Myopathic facies Spasticity Ataxia Delayed speech and language development Autism Intellectual disability, profound Agammaglobulinemia Recurrent respiratory infections Respiratory tract infection Downslanted palpebral fissures Myoclonus EEG abnormality Narrow forehead Inability to walk Wide nasal bridge Narrow mouth Strabismus Decreased antibody level in blood Joint hypermobility Delayed myelination Chorea Involuntary movements Bruxism Low frustration tolerance Synophrys Dystonia Aggressive behavior Pes planus Gait ataxia Cerebral atrophy Infantile encephalopathy Central hypotonia Severe muscular hypotonia Progressive microcephaly Pachygyria Open mouth Status epilepticus Rod-cone dystrophy Unsteady gait Polydactyly Short palpebral fissure Hypermetropia Attention deficit hyperactivity disorder Anxiety Thin upper lip vermilion Hyperactivity Long philtrum Asthma Prominent nose Abnormality of the dentition Microdontia Myopia Infra-orbital crease Deeply set eye Enlarged cisterna magna Molar tooth sign on MRI Deep philtrum Encephalocele Narrow palpebral fissure Oligodontia Cerebellar vermis hypoplasia Eosinophilia Thick vermilion border Postaxial polydactyly Hirsutism Hypodontia Feeding difficulties in infancy Highly arched eyebrow Sloping forehead Internally nucleated skeletal muscle fibers Pneumonia Anteverted nares Tall stature Febrile seizures Facial asymmetry Abnormality of the foot Microtia Proptosis Posteriorly rotated ears Cryptorchidism Frog-leg posture Functional respiratory abnormality Short chin Centrally nucleated skeletal muscle fibers Weak cry Fasciculations Thickened skin Lethargy Dolichocephaly Prominent forehead Hyporeflexia Stereotypy Postnatal microcephaly Hypotelorism Round face Chronic bronchitis Brain atrophy Increased number of teeth Full cheeks Neonatal hypotonia Kyphoscoliosis Cerebellar hypoplasia Encephalopathy Hypertonia Edema Hypoplasia of the corpus callosum Optic atrophy Hyperreflexia Bilateral conductive hearing impairment Flat occiput Short stature Brittle hair Long eyelashes Bifid uvula Single transverse palmar crease Thick eyebrow Abnormality of the pinna Conductive hearing impairment Brachycephaly Intellectual disability, mild Anemia Cleft palate Thin eyebrow


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Thick eyebrow, related diseases and genetic alterations Ventricular septal defect and Apraxia, related diseases and genetic alterations Hepatomegaly and Pancytopenia, related diseases and genetic alterations