Abnormal facial shape, and Abnormality of eye movement

Diseases related with Abnormal facial shape and Abnormality of eye movement

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Abnormality of eye movement that can help you solving undiagnosed cases.


Top matches:

Low match MENTAL RETARDATION, X-LINKED 101; MRX101


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 101; MRX101

Low match ISOLATED PLAGIOCEPHALY


Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.

ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis|synostotic plagiocephaly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Strabismus
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED PLAGIOCEPHALY

Low match CONGENITAL PRIMARY APHAKIA


Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.

CONGENITAL PRIMARY APHAKIA Is also known as aphakia, congenital primary|cpak|cpa

Related symptoms:

  • Nystagmus
  • Abnormal facial shape
  • Cataract
  • Microphthalmia
  • Glaucoma


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL PRIMARY APHAKIA

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Other less relevant matches:

Low match ROBINOW-SORAUF SYNDROME


ROBINOW-SORAUF SYNDROME Is also known as acrocephalosyndactyly, robinow-sorauf type|craniosynostosis-bifid hallux syndrome

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Malar flattening
  • Flat face
  • Plagiocephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ROBINOW-SORAUF SYNDROME

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20


Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20 Is also known as coxpd20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20

Low match HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3


Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

Low match NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY; NEDMEBA


NEDMEBA is an autosomal recessive neurodegenerative disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia (summary by Marin-Valencia et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY; NEDMEBA

Low match X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY


Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx|mrx18|mental retardation, x-linked 78|mrx78|mental retardation, x-linked 18

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Low match OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME


Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of eye movement

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Abnormality of eye movement. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Plagiocephaly Absent speech

Rare Symptoms - Less than 30% cases


Protruding ear Hypertelorism Macrotia Visual field defect Nystagmus Poor speech Upslanted palpebral fissure Flat face Short stature Facial edema Protein-losing enteropathy Abnormal intestine morphology Lymphedema Synophrys Hepatosplenomegaly Edema Polyhydramnios Progressive external ophthalmoplegia Hypoplasia of the corpus callosum External ophthalmoplegia Ophthalmoplegia Muscle weakness Myoclonus Ptosis Growth delay Intellectual disability, severe Cerebral cortical atrophy Abnormality of the head Cerebral visual impairment Optic disc pallor Tapered finger Prominent nasal bridge Reduced visual acuity Anteverted nares Optic atrophy Epicanthus Visual impairment Postnatal microcephaly Generalized tonic-clonic seizures Hypermetropia Autistic behavior Aggressive behavior Neonatal hypotonia Brachycephaly Behavioral abnormality Appendicular hypotonia Atrophy/Degeneration affecting the brainstem Stereotypy Generalized-onset seizure Ataxia Duplication of phalanx of hallux Arachnoid cyst Glaucoma Hypoplasia of the iris Posterior embryotoxon Aniridia Ectopia lentis Abnormality of vision Microcornea Corneal opacity Coloboma Microphthalmia Increased intraocular pressure Cataract Facial asymmetry Midface retrusion Frontal bossing Macrocephaly Hearing impairment Long face Hyperactivity Sclerocornea Retinal dysplasia Intellectual disability, profound Broad hallux Coarse facial features Cerebral atrophy Ventriculomegaly Failure to thrive Craniofacial dysostosis Narrow nose Shallow orbits Long nose Malar flattening Ectopia pupillae Anterior segment of eye aplasia Aplasia/Hypoplasia affecting the anterior segment of the eye Aphakia Posterior synechiae of the anterior chamber Polycoria Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Peters anomaly Corneal neovascularization Obsessive-compulsive behavior



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