Microphthalmia, and Microtia

Diseases related with Microphthalmia and Microtia

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


Top matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

Medium match TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME


Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

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Other less relevant matches:

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Medium match SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20

Medium match TREACHER COLLINS SYNDROME 1; TCS1


Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.

TREACHER COLLINS SYNDROME 1; TCS1 Is also known as mfd1|tcs|treacher collins syndrome|tcof|mandibulofacial dysostosis|treacher collins-franceschetti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 1; TCS1

Medium match HOLOPROSENCEPHALY 9; HPE9


Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Medium match VACTERL WITH HYDROCEPHALUS


VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

Medium match BOR SYNDROME


Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Medium match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Microtia

Symptoms // Phenotype % cases
Hydrocephalus Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Anal atresia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Microphthalmia and Microtia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Micrognathia Intellectual disability Microcephaly Low-set ears Cataract Oral cleft Respiratory insufficiency Microcornea Encephalocele Pulmonary hypoplasia Agenesis of corpus callosum Narrow mouth Iris coloboma Seizures Preauricular skin tag Hearing impairment Anophthalmia Atresia of the external auditory canal Generalized hypotonia Short neck Intrauterine growth retardation Micropenis Hydronephrosis Cleft lip Abnormality of the pinna Renal hypoplasia Frontal bossing Macrocephaly Retrognathia Hypoplasia of the corpus callosum Optic nerve hypoplasia

Rare Symptoms - Less than 30% cases


Myopia Cerebellar hypoplasia Glaucoma Depressed nasal bridge Anemia Partial agenesis of the corpus callosum Hypoplasia of the radius Anotia Lacrimal duct stenosis Microdontia Aqueductal stenosis Abnormality of the optic nerve Occipital encephalocele Renal hypoplasia/aplasia Posteriorly rotated ears Hypospadias Growth delay Absent thumb Tracheoesophageal fistula Postaxial polydactyly Respiratory distress Renal dysplasia Malar flattening Abnormality of cardiovascular system morphology Abnormal heart morphology Conductive hearing impairment Protruding ear Areflexia Facial palsy Elevated serum creatine phosphokinase Polydactyly Coloboma Dental malocclusion Abnormality of the outer ear Bifid uvula Ventriculomegaly Esophageal atresia Midface retrusion Flat face Downslanted palpebral fissures Congenital muscular dystrophy Agyria Intellectual disability, profound Abnormality of the kidney Remnants of the hyaloid vascular system Hypoplasia of the brainstem Hemivertebrae Optic atrophy Peters anomaly Polyhydramnios Lissencephaly Wide nasal bridge Abnormal cortical gyration Bilateral cleft lip Multicystic kidney dysplasia Pachygyria Type II lissencephaly Short stature Dandy-Walker malformation Renal agenesis Muscular dystrophy Polymicrogyria Retinal detachment Heterotopia Retinal dysplasia Congenital hip dislocation Bilateral sensorineural hearing impairment Narrow face Polycystic kidney dysplasia Atrial fibrillation Alobar holoprosencephaly Hypoplasia of the premaxilla Cupped ear Intestinal malrotation Thoracic hemivertebrae Epiphora Preauricular pit Vesicoureteral reflux Ectopic kidney Oligohydramnios Anterior pituitary agenesis Underdeveloped tragus Microtia, third degree Abnormal vertebral morphology Abnormal form of the vertebral bodies Spina bifida Abnormality of the vertebral column Single umbilical artery Femoral hernia Mixed hearing impairment Arrhinencephaly Radial club hand Absence of the sacrum Abnormality of the fallopian tube Hip dislocation Single naris Sensorineural hearing impairment High palate Respiratory failure Inguinal hernia Diastolic heart murmur Asymmetric ventricles Agenesis of incisor Dysphagia Renal insufficiency Paralysis Long face Short hard palate Premature graying of hair Abnormality of the renal collecting system External ear malformation Hypoplasia of penis Absent septum pellucidum Congenital glaucoma Abnormality of neuronal migration Congenital contracture Severe muscular hypotonia Cerebellar vermis hypoplasia Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Specific learning disability Retinal dystrophy Cleft upper lip Congenital cataract Abnormality of the cerebral white matter Corneal opacity Submucous cleft hard palate Retinal atrophy Proptosis Abnormal levels of creatine kinase in blood Macrogyria Severe hydrocephalus Chorioretinal dysplasia Hypoplastic male external genitalia Metatarsus valgus Abnormality of the cerebellar vermis Hypoglycosylation of alpha-dystroglycan Megalocornea Meningoencephalocele Posterior fossa cyst Excessive daytime sleepiness Cerebellar cyst Cerebellar dysplasia Muscle fiber splitting Buphthalmos Retinopathy Hyporeflexia Stenosis of the external auditory canal Arteria lusoria Bilateral renal dysplasia Renal steatosis Hypoplasia of the cochlea Cochlear malformation Renal malrotation Branchial fistula Branchial cyst Euthyroid goiter Body odor Abnormality of the middle ear ossicles Bilateral renal agenesis Overbite Ureteropelvic junction obstruction Lacrimation abnormality Unilateral renal hypoplasia Lacrimal duct aplasia Dilatation Muscular hypotonia Myopathy Blindness Intellectual disability, severe Skeletal muscle atrophy Semilobar holoprosencephaly Flexion contracture Muscle weakness Abnormal lactate dehydrogenase activity Gustatory lacrimation Enlarged cochlear aqueduct Cholesteatoma Dilatated internal auditory canal Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the cerebrum Prominent antihelix Reduced number of teeth Single median maxillary incisor Rectovaginal fistula Short palpebral fissure Scrotal hypoplasia Overfolded helix Broad neck Ureterocele Neoplasm Abnormal facial shape Leukemia Full cheeks Cafe-au-lait spot Bone marrow hypocellularity Chromosome breakage Depressed nasal tip Abnormality of chromosome stability Tapered finger Forearm undergrowth Hypoplastic sacrum Abnormality of the skeletal system Brachycephaly Narrow chest Tetralogy of Fallot Low posterior hairline Wide anterior fontanel Short ribs Preaxial polydactyly Natal tooth Fibular hypoplasia Short tibia Wide intermamillary distance Short palm Complete atrioventricular canal defect Vaginal atresia Deeply set eye Decreased fetal movement Large fontanelles Adducted thumb Weak cry Gonadal dysgenesis Corpus callosum atrophy Abnormality of the ribs Abnormal lung lobation Aplasia/Hypoplasia of the lungs Missing ribs Tracheal stenosis Abnormality of the larynx Aplasia/Hypoplasia of the nipples Carious teeth Abnormally ossified vertebrae Septo-optic dysplasia Aplasia/Hypoplasia involving the nose Tetraamelia Aplasia/Hypoplasia involving the pelvis Delayed speech and language development Motor delay Epicanthus Pectus excavatum Upslanted palpebral fissure Osteopenia Pes planus Low-set, posteriorly rotated ears Blepharophimosis Thoracic dysplasia Lateral clavicle hook Wide cranial sutures Postaxial hand polydactyly Lower eyelid coloboma Sparse lower eyelashes Ectopic adrenal gland Widely spaced primary teeth Projection of scalp hair onto lateral cheek Hypoplasia of the pharynx Abnormal parotid gland morphology Ventricular septal defect Macrotia Short philtrum Pulmonic stenosis Hypoplasia of the maxilla Growth hormone deficiency Sloping forehead Mandibulofacial dysostosis Hypotelorism Coarctation of aorta Holoprosencephaly Patent foramen ovale Heart murmur Neurodevelopmental delay Median cleft lip Skin tags Bilateral cleft lip and palate Large forehead Panhypopituitarism Anterior pituitary hypoplasia Median cleft lip and palate Upper eyelid coloboma Accessory spleen Horizontal ribs Ptosis Uterus didelphys Hypoplastic pubic bone Long thorax Hamartoma of tongue Multiple skeletal anomalies Laryngeal hypoplasia Septate vagina Decreased calvarial ossification Large posterior fontanelle Absent nasal bridge Narrow sacroiliac notch Esophageal diverticulum Strabismus Feeding difficulties Bilateral microphthalmos Visual impairment Abnormality of the dentition Visual loss Apnea Wide mouth Choanal atresia Sparse eyelashes Sleep apnea Agenesis of permanent teeth Glossoptosis Obstructive sleep apnea Choanal stenosis Abnormality of the nose Cleft soft palate Abnormal aldolase level



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