Micrognathia, and Microcornea

Diseases related with Micrognathia and Microcornea

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


Top matches:

High match OCULOAURICULAR SYNDROME, SCHORDERET TYPE


Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).

OCULOAURICULAR SYNDROME, SCHORDERET TYPE Is also known as schorderet-munier-franceschetti syndrome|microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Microphthalmia
  • Rod-cone dystrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OCULOAURICULAR SYNDROME, SCHORDERET TYPE

High match MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2


Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

High match COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD


Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

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Other less relevant matches:

High match OTODENTAL SYNDROME


Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

High match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

High match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

High 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

High match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

High 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

High match MECKEL SYNDROME


Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Microcornea

Symptoms // Phenotype % cases
Microphthalmia Very Common - Between 80% and 100% cases
Cataract Very Common - Between 80% and 100% cases
Microcephaly Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Micrognathia and Microcornea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Coloboma Short stature Iris coloboma Hydrocephalus Global developmental delay Sclerocornea Narrow mouth Short palpebral fissure Low-set ears Cleft palate Hypertelorism Hearing impairment Abnormality of the pinna Optic atrophy

Rare Symptoms - Less than 30% cases


Full cheeks Posteriorly rotated ears Telecanthus Frontal bossing Abnormality of the dentition Long philtrum Sensorineural hearing impairment Carious teeth Generalized hypotonia Delayed eruption of teeth Aplasia/Hypoplasia of the iris Abnormality of dental enamel Deeply set eye Low-set, posteriorly rotated ears Accessory spleen Wide nasal bridge Multicystic kidney dysplasia Microtia Agenesis of corpus callosum Downslanted palpebral fissures Ptosis Epicanthus Delayed speech and language development Strabismus Sloping forehead Peters anomaly Ambiguous genitalia Hypospadias Optic nerve hypoplasia Nystagmus Prominent nose Cerebellar hypoplasia Congenital cataract Seizures Visual impairment Corneal opacity Urethral atresia Lobar holoprosencephaly Vaginal atresia Aplasia/Hypoplasia of the nipples Abnormally ossified vertebrae Septo-optic dysplasia Aplasia/Hypoplasia involving the nose Tetraamelia Aplasia/Hypoplasia involving the pelvis Spina bifida Retinal dystrophy Cognitive impairment Myopathy Tracheal stenosis Polydactyly Hydronephrosis Wide mouth Prominent nasal bridge Malabsorption Astigmatism Intestinal malrotation Cerebellar vermis hypoplasia Renal hypoplasia Preaxial polydactyly Abnormality of the larynx Missing ribs Duodenal atresia Fifth finger distal phalanx clinodactyly Narrow nose Spinal cord compression Mild global developmental delay Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor 4-5 finger syndactyly Aplasia/Hypoplasia of the lungs 2-4 toe cutaneous syndactyly Chorioretinal coloboma Cone/cone-rod dystrophy Polyhydramnios Spina bifida occulta Anal atresia Oral cleft Abnormality of the ribs Horizontal nystagmus Abnormal lung lobation Short columella Ectopia pupillae Abnormal chorioretinal morphology Aplasia/Hypoplasia of the corpus callosum Talipes Dandy-Walker malformation Postaxial hand polydactyly Oligohydramnios Depressed nasal ridge True hermaphroditism Encephalocele Pancreatic fibrosis Bowing of the long bones Situs inversus totalis Anophthalmia Ureterocele Preaxial hand polydactyly Anencephaly Male pseudohermaphroditism Postaxial foot polydactyly Asplenia Furrowed tongue Congenital hepatic fibrosis Ureteral duplication Pancreatic cysts Aplasia/Hypoplasia of the tongue Abnormality of cardiovascular system morphology Broad neck Sex reversal Midface retrusion Intestinal atresia Long nose Retinal vascular tortuosity Bilateral renal hypoplasia Hypoplastic iris stroma Jejunal atresia Corneal astigmatism Motor delay Short neck Hypoplasia of the corpus callosum Pectus excavatum Overfolded helix Upslanted palpebral fissure Osteopenia Pes planus Rod-cone dystrophy Blepharophimosis Flat face Short palm Tapered finger Wide intermamillary distance Microdontia Scrotal hypoplasia Basal ganglia calcification Sparse eyelashes Hyperostosis Macrodontia Gingival overgrowth Exodeviation Progressive hearing impairment Progressive sensorineural hearing impairment Increased number of teeth Ankylosis Taurodontia Periodontitis Retinal coloboma High-frequency hearing impairment Pulp stones Bilateral sensorineural hearing impairment High-frequency sensorineural hearing impairment Odontoma Lens coloboma Agenesis of premolar Otitis media with effusion Abnormality of the maxilla Abnormality of canine Abnormality of molar morphology Abnormality of the dental pulp Scoliosis Neoplasm Hypoplasia of dental enamel Ectodermal dysplasia Short mandibular rami Congenital sensorineural hearing impairment Retinopathy Hypoplasia of the brainstem Cortical gyral simplification Macular atrophy Proptosis Severe short stature Macrocephaly Cerebral atrophy Cerebellar atrophy Intrauterine growth retardation Preauricular pit Inferior chorioretinal coloboma Albinism Premature graying of hair Shallow orbits Osteopetrosis Blue irides Generalized hypopigmentation Anteverted nares Growth delay Long face Iris cyst Hypodontia Microphakia Cardiomyopathy Abnormality of dental morphology Small hand Myopia Peripheral visual field loss Syndactyly Clinodactyly Delayed skeletal maturation Brachycephaly Posterior embryotoxon Congenital nystagmus Toe syndactyly Thin vermilion border Short foot Anterior segment developmental abnormality Hypoplasia of the maxilla Triangular face Dental malocclusion Underdeveloped nasal alae Overgrowth Abnormality of the ear Fine hair Sparse scalp hair Large fontanelles Dental crowding Optic disc pallor Increased intraocular pressure Anterior synechiae of the anterior chamber Renal insufficiency Aniridia Obesity Posterior synechiae of the anterior chamber Glaucoma Hypertrophic cardiomyopathy Leukemia Nephropathy Everted lower lip vermilion Polar cataract Abnormality of the genital system Abnormality of the genitourinary system Nephroblastoma Acute lymphoblastic leukemia Failure to thrive Hearing abnormality Renal neoplasm Hemihypertrophy Abnormality of the uterus Gonadoblastoma Macular hypoplasia Abnormal vagina morphology Nasolacrimal duct obstruction Streak ovary Displacement of the external urethral meatus Dysfunction of lateral corticospinal tracts Cystic liver disease



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