Microphthalmia, and Round face

Diseases related with Microphthalmia and Round face

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


Top matches:

Medium match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Medium match TARP SYNDROME


TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.

TARP SYNDROME Is also known as pierre robin syndrome-congenital heart defect-talipes syndrome|pierre robin sequence-congenital heart defect-talipes syndrome|talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava|talipes equinovarus-atrial

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TARP SYNDROME

Medium match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

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Other less relevant matches:

Medium match PETERS PLUS SYNDROME


Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS PLUS SYNDROME Is also known as peters anomaly with short-limb dwarfism|krause-kivlin syndrome|krause-van schooneveld-kivlin syndrome|peters anomaly with short limb dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PETERS PLUS SYNDROME

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

Low match FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME


Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME Is also known as fdlab syndrome|ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism|traboulsi syndrome|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Microphthalmia
  • Visual loss
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME

Low match JOUBERT SYNDROME 22; JBTS22


Related symptoms:

  • Global developmental delay
  • Growth delay
  • Abnormal facial shape
  • Intrauterine growth retardation
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 22; JBTS22

Low match MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Abnormal facial shape
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3

Low match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Low 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

Top 5 symptoms//phenotypes associated to Microphthalmia and Round face

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cataract Depressed nasal bridge Seizures Downslanted palpebral fissures Intellectual disability Nystagmus Low-set ears Abnormal heart morphology Microcephaly Glaucoma Toe syndactyly Myopia Long philtrum Abnormality of cardiovascular system morphology Intrauterine growth retardation Abnormality of dental enamel Microcornea Optic nerve hypoplasia Carious teeth Micrognathia Hearing impairment Optic atrophy Generalized hypotonia Coloboma

Rare Symptoms - Less than 30% cases


Postaxial polydactyly Hydronephrosis Hepatic failure Pectus excavatum Polydactyly Hypoplasia of the corpus callosum Clinodactyly Tetralogy of Fallot Atrial septal defect Wide nasal bridge High palate Cryptorchidism Cleft palate Single transverse palmar crease Ventricular septal defect Short palpebral fissure Short nose Ectopia lentis Retinal dysplasia Posterior synechiae of the anterior chamber Peters anomaly Retinal coloboma Retrognathia Iris coloboma Corneal opacity Frontal bossing Cutaneous syndactyly Visual impairment Growth delay Abnormal cardiac septum morphology Thin upper lip vermilion Prominent forehead Abnormality of the dentition Muscular hypotonia 2-3 toe syndactyly Hypoplasia of dental enamel Hypothyroidism Craniosynostosis Sudden cardiac death Hip dislocation Immunodeficiency Long face Ptosis Macrotia Macrocephaly Recurrent infections Visual loss Clinodactyly of the 5th finger Sinusitis Constipation Scoliosis Hemivertebrae Spina bifida occulta Webbed neck Wide intermamillary distance Intellectual disability, progressive Limb undergrowth Wide anterior fontanel Preauricular skin tag Multicystic kidney dysplasia Decreased fetal movement Decreased body weight Short toe Rhizomelia Aplasia/Hypoplasia of the corpus callosum Sacral dimple Preauricular pit Renal hypoplasia/aplasia Hypoplastic labia majora Abnormality of the pulmonary artery Biliary tract abnormality Ureteral duplication Splenomegaly Anterior hypopituitarism Communicating hydrocephalus Kyphosis Diastasis recti Disproportionate short-limb short stature Stenosis of the external auditory canal Short columella Broad neck Hypoplasia of the uterus Blurred vision Proximal placement of thumb Short metatarsal Abnormality of pelvic girdle bone morphology Short metacarpal Lymphopenia Brain atrophy Hydrocephalus Severe short stature Pes cavus Agenesis of corpus callosum Inguinal hernia Hypospadias Dilatation Cerebral atrophy Intellectual disability, severe Ventriculomegaly Brachycephaly Brachydactyly Abdominal pain Hyperkeratosis Proptosis Short stature Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Upslanted palpebral fissure Cerebral cortical atrophy Short foot Pulmonic stenosis Clitoral hypoplasia Headache Short palm Thin vermilion border Cleft upper lip Micromelia Smooth philtrum Anal atresia Wide mouth Polyhydramnios Protruding ear Abnormality of the pinna Postnatal growth retardation Feeding difficulties in infancy Low-set, posteriorly rotated ears Cleft lip Joint laxity Conductive hearing impairment Umbilical hernia Limited elbow movement Exaggerated cupid's bow Rieger anomaly Metabolic acidosis Sensorineural hearing impairment Adducted thumb Tented upper lip vermilion Infantile muscular hypotonia Postnatal microcephaly Aciduria Underdeveloped nasal alae Delayed myelination Bulbous nose Hypodontia Lactic acidosis Sparse hair High forehead Acidosis Dystonia Epicanthus Feeding difficulties Chorioretinal dysplasia Congenital microcephaly Delayed eruption of teeth Full cheeks Retinal detachment Pulp stones Abnormality of molar morphology Abnormality of canine Abnormality of the maxilla Otitis media with effusion Agenesis of premolar Lens coloboma Odontoma High-frequency sensorineural hearing impairment Macrodontia Ectodermal dysplasia High-frequency hearing impairment Periodontitis Taurodontia Ankylosis Increased number of teeth Progressive sensorineural hearing impairment Progressive hearing impairment Gingival overgrowth Bilateral sensorineural hearing impairment Chorioretinal atrophy Abnormality of the nervous system Mesomelic short stature Bilobate gallbladder Sclerocornea Hypoplasia of the iris Posterior embryotoxon Aniridia Abnormality of vision Fever Microtia, second degree Agenesis of maxillary lateral incisor Anterior chamber synechiae Pain Intestinal fistula Square pelvis bone Facial hypertrichosis Aplasia/hypoplasia of the extremities Conical incisor Short lingual frenulum Hypoplasia of the vagina Birth length less than 3rd percentile Frontal balding Increased intraocular pressure Ectopia pupillae Reduced visual acuity Dental malocclusion Undetectable electroretinogram Postaxial foot polydactyly Foot polydactyly Molar tooth sign on MRI Renal hypoplasia Postaxial hand polydactyly Large beaked nose Iris atrophy Convex nasal ridge Prominent nose Corneal neovascularization Wide nose Neoplasm Anterior segment of eye aplasia Aplasia/Hypoplasia affecting the anterior segment of the eye Aphakia Strabismus Polycoria Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Abnormality of dental color Perimembranous ventricular septal defect Biventricular hypertrophy Vascular skin abnormality Upper limb asymmetry Keloids Nephrogenic diabetes insipidus Epibulbar dermoid Venous malformation Neoplasm of the central nervous system Generalized hyperkeratosis Thrombophlebitis Asymmetry of the thorax Lymphangioma Asymmetric growth Enlarged polycystic ovaries Thick nasal alae Visceral angiomatosis Long penis Thin bony cortex Myofibrillar myopathy Buphthalmos Arterial thrombosis Testicular neoplasm Epidermal nevus Hemihypertrophy Retinal nonattachment Lymphedema Mandibular hyperostosis Hypertrophy of skin of soles Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Neoplasm of the thymus Abnormal subcutaneous fat tissue distribution Bronchogenic cyst Metatarsus valgus Retinal hamartoma Thymus hyperplasia Nevus sebaceous Facial hyperostosis Narrow internal auditory canal Sirenomelia Macrodactyly Portal vein thrombosis Calvarial hyperostosis Anisocytosis Abnormality of the neck Failure to thrive Lipodystrophy Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass Diabetes insipidus Hyperostosis Melanocytic nevus Chorioretinal coloboma Cachexia Multiple lipomas Growth abnormality Reduced number of teeth Palmoplantar hyperkeratosis Goiter Abnormality of the metacarpal bones Hemangioma Venous thrombosis Abnormal vertebral morphology Generalized hirsutism Neurofibromas Multiple cafe-au-lait spots Lower limb asymmetry Capillary hemangioma Arteriovenous malformation Varicose veins Deep venous thrombosis Meningioma Macroorchidism Abnormality of the wrist Abnormality of finger Spinal cord compression Papilledema Hamartoma Exostoses Lipoma Neoplasm of the lung Abnormal lung lobation Irregular hyperpigmentation Spinal canal stenosis Pulmonary embolism Generalized hyperpigmentation Ovarian neoplasm Abnormality of retinal pigmentation Thickened skin Cutaneous syndactyly of toes Hypoglycemia Esotropia Syncope Hypoplasia of the maxilla Coma Joint hypermobility Kyphoscoliosis Autistic behavior Hypertrophic cardiomyopathy Skeletal dysplasia Cardiomegaly Gastroesophageal reflux Carcinoma Autism Intellectual disability, moderate Pneumonia Arrhythmia Patent ductus arteriosus Encephalopathy Depressivity Microdontia Pulmonary arterial hypertension Joint stiffness Prolonged QT interval Torsade de pointes Abnormality of the nail Hypothermia Amelogenesis imperfecta Protruding tongue Cutaneous finger syndactyly Bronchitis Mixed hearing impairment Multiple joint contractures Abnormality of the face Ventricular fibrillation Obsessive-compulsive behavior Patent foramen ovale Atrioventricular block Ventricular arrhythmia Ventricular tachycardia Hypocalcemia Cardiac arrest Bradycardia Behavioral abnormality Myopathy Subcutaneous nodule Posteriorly rotated ears Abnormality of skin pigmentation Polymicrogyria Renal cyst Talipes Abdominal distention Microtia Respiratory failure Gliosis Cerebellar hypoplasia Confusion Nevus Decreased antibody level in blood Overgrowth High myopia Talipes equinovarus Epidermal acanthosis Open mouth Abnormal form of the vertebral bodies Heterotopia Cerebellar vermis hypoplasia Large fontanelles Dysphagia Deep palmar crease Cognitive impairment Finger syndactyly Cerebellar hemorrhage Tongue nodules Prominent antihelix Persistent left superior vena cava Abnormal corpus callosum morphology Short sternum Cleft soft palate Horseshoe kidney Abnormal hair pattern Pierre-Robin sequence Glossoptosis Underdeveloped supraorbital ridges Absent septum pellucidum Athetosis Hypoplasia of the radius Dolichocephaly Facial asymmetry Abnormality of the dental pulp



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Metabolic acidosis, related diseases and genetic alterations

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