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: MONDO UMLS OMIM

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: ICD10 ORPHANET

More info about ISOLATED PLAGIOCEPHALY

Low match ANTERIOR SEGMENT DYSGENESIS 2; ASGD2

Anterior segment dysgeneses are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes, including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Some patients with ASGD2 have been reported with a congenital primary aphakia subtype.Congenital primary aphakia is a rare developmental disorder characterized by absence of the lens, the development of which is normally induced during the fourth to fifth week of human embryogenesis. This original failure leads, in turn, to complete aplasia of the anterior segment of the eye, which is the diagnostic histologic criterion for CPAK. In contrast, in secondary aphakia, lens induction occurs and the lens vesicle develops to some degree, but is progressively resorbed perinatally, resulting in less severe ocular defects (summary by Valleix et al., 2006).

ANTERIOR SEGMENT DYSGENESIS 2; ASGD2 Is also known as aphakia, congenital primary;cpak, cpa;

Related symptoms:

  • Autosomal recessive inheritance
  • Nystagmus
  • Abnormal facial shape
  • Cataract
  • Coma


SOURCES: ICD10 ICD9 MESH SCTID NCIT GARD DOID UMLS MONDO OMIM ORPHANET

More info about ANTERIOR SEGMENT DYSGENESIS 2; ASGD2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match LEBER CONGENITAL AMAUROSIS 3; LCA3

Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997).Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement.For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (OMIM ); for retinitis pigmentosa, see {268000}.

Related symptoms:

  • Autosomal recessive inheritance
  • Pica
  • Nystagmus
  • Visual impairment
  • Reduced visual acuity


SOURCES: OMIM MESH MONDO DOID UMLS GARD

More info about LEBER CONGENITAL AMAUROSIS 3; LCA3

Low match ROBINOW-SORAUF SYNDROME

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

Related symptoms:

  • Autosomal dominant inheritance
  • Hypertelorism
  • Strabismus
  • Malar flattening
  • Syndactyly


SOURCES: MONDO ORPHANET UMLS MESH OMIM

More info about ROBINOW-SORAUF SYNDROME

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20 Is also known as ;coxpd20

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: UMLS MONDO OMIM ORPHANET

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO ORPHANET OMIM UMLS

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Related symptoms:

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


SOURCES: DOID MONDO UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Low match MENTAL RETARDATION, X-LINKED 49; MRX49

Nonsyndromic mental retardation. Hypotonia in infancy, poor or absent speech, and other disorders are occasionally associated.

MENTAL RETARDATION, X-LINKED 49; MRX49 Is also known as mental retardation, x-linked 15;mrx15

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about MENTAL RETARDATION, X-LINKED 49; MRX49

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Related symptoms:

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


SOURCES: MONDO OMIM DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

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 Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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


Absent speech Microcephaly Autosomal recessive inheritance Pica

Rare Symptoms - Less than 30% cases


Nystagmus Plagiocephaly Infantile onset Poor speech Hypertelorism Epicanthus X-linked recessive inheritance Coarse facial features Depressed nasal bridge Cerebral atrophy Appendicular hypotonia Blue nevus Arachnoid cyst Intellectual disability, profound Ophthalmoplegia Ventriculomegaly Failure to thrive Progressive external ophthalmoplegia External ophthalmoplegia Short nose Myoclonus Muscle weakness Ptosis Ataxia Delayed speech and language development Wide mouth Long philtrum Behavioral abnormality Inability to walk Hypotelorism EEG abnormality Downslanted palpebral fissures Generalized tonic-clonic seizures with focal onset Focal seizures with impairment of consciousness or awareness Epileptic encephalopathy Focal seizures X-linked inheritance Cerebral cortical atrophy Encephalopathy Dystonia Obesity Intellectual disability, mild Spasticity Motor delay Scoliosis Sandal gap Pointed chin Downturned corners of mouth Craniofacial dysostosis Aggressive behavior Clinodactyly Upslanted palpebral fissure Duplication of phalanx of hallux Malar flattening Narrow nose Visual field defect Retinal dysplasia Nuclear cataract Abnormality of vision Microcornea Corneal opacity Coloboma Glaucoma Microphthalmia Coma Cataract Sclerocornea Facial asymmetry Midface retrusion Frontal bossing Macrocephaly Hearing impairment Long face Protruding ear Hyperactivity Macrotia Congenital onset Aniridia Anterior segment developmental abnormality Shallow orbits Retinal atrophy Long nose Broad hallux Flat face Syndactyly Autosomal dominant inheritance Rotary nystagmus Retinal pigment epithelial atrophy Small face Congenital blindness Constriction of peripheral visual field Exotropia Peters anomaly Esotropia Astigmatism Deeply set eye Nyctalopia Visual loss Reduced visual acuity Visual impairment Aplasia/Hypoplasia affecting the anterior segment of the eye Anterior segment of eye aplasia Aphakia Posterior synechiae of the anterior chamber Postnatal microcephaly



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other signs and symptoms that you may find interesting

Autoimmunity and Craniosynostosis, related diseases and genetic alterations Macrocephaly and Scarring, related diseases and genetic alterations Macrocephaly and Dysphagia, related diseases and genetic alterations Ptosis and Spinal muscular atrophy, related diseases and genetic alterations Obesity and Toe syndactyly, related diseases and genetic alterations