Microphthalmia, and Microdontia

Diseases related with Microphthalmia and Microdontia

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


Top matches:

Medium match SECKEL SYNDROME 2; SCKL2


Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

SECKEL SYNDROME 2; SCKL2 Is also known as microcephalic primordial dwarfism 2|seckel-type dwarfism 2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 2; SCKL2

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

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

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Other less relevant matches:

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE


Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Medium match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Medium match BRANCHIO-OCULO-FACIAL SYNDROME


Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

BRANCHIO-OCULO-FACIAL SYNDROME Is also known as bofs|hemangiomatous branchial clefts-lip pseudocleft syndrome|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging|bof syndrome|lip pseudocleft-hemangiomatous branchial cyst syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIO-OCULO-FACIAL SYNDROME

Medium match GORLIN-CHAUDHRY-MOSS SYNDROME


Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

Medium match OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Medium match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Top 5 symptoms//phenotypes associated to Microphthalmia and Microdontia

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Micrognathia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Abnormality of the pinna Microcornea Flat face Generalized hypotonia Seizures Microtia Abnormality of the dentition Depressed nasal bridge Strabismus Flexion contracture Short nose Short palpebral fissure Sensorineural hearing impairment Hydrocephalus Conductive hearing impairment Hip dislocation Postnatal growth retardation Ptosis Abnormal heart morphology Intellectual disability, mild Atrial septal defect Talipes equinovarus Intrauterine growth retardation Anteverted nares Feeding difficulties Cataract Narrow mouth Clinodactyly of the 5th finger Wide nasal bridge Downslanted palpebral fissures Short neck Small for gestational age Epicanthus Posteriorly rotated ears Motor delay Hypospadias Glaucoma Low posterior hairline Multicystic kidney dysplasia Hernia Syndactyly Premature graying of hair Brachydactyly Osteopenia Frontal bossing Pyloric stenosis Nystagmus Amblyopia Abnormal facial shape Heart murmur Intestinal malrotation Osteoporosis Thin upper lip vermilion Talipes Sparse hair Mandibular prognathia Short thumb Scoliosis Myopia Blepharophimosis Ventricular septal defect Scrotal hypoplasia Hydronephrosis Midface retrusion Retrognathia Upslanted palpebral fissure Low-set, posteriorly rotated ears Pulmonary hypoplasia Pes planus

Rare Symptoms - Less than 30% cases


Lymphedema Growth hormone deficiency Annular pancreas Anteriorly placed anus Abnormality of cardiovascular system morphology Dermal atrophy Clinodactyly Broad columella Muscular hypotonia Hypogonadism Congestive heart failure Inguinal hernia High forehead Hypoglycemia Prominent forehead Abnormal cardiac septum morphology Toe syndactyly Narrow chest Abnormality of the skeletal system Hypodontia Hand polydactyly Polydactyly Anal atresia Hypertension Webbed neck Camptodactyly Skin rash Abnormal form of the vertebral bodies Finger syndactyly Kyphoscoliosis Bicuspid aortic valve Coloboma Gastroesophageal reflux Brachycephaly Long philtrum Spasticity Deep palmar crease Patent ductus arteriosus Delayed skeletal maturation Natal tooth Proptosis Retinal dysplasia Umbilical hernia Narrow nasal bridge Craniosynostosis Hypermetropia Abnormality of vision Smooth philtrum Pachygyria Respiratory distress Muscle weakness Telecanthus Elbow flexion contracture Left ventricular hypertrophy Neurological speech impairment Dolichocephaly Cleft upper lip Iris coloboma Everted lower lip vermilion Single transverse palmar crease Reduced number of teeth Failure to thrive Preaxial polydactyly Preaxial hand polydactyly Non-midline cleft lip Median cleft lip Premature skin wrinkling Nasolacrimal duct obstruction Optic atrophy Abnormality of the foot Abnormality of the eye Wide intermamillary distance Carious teeth Mild global developmental delay Oligohydramnios Branchial fistula Delayed speech and language development Arteria lusoria Abnormality of the kidney Congenital hip dislocation Hypoplasia of the corpus callosum Renal agenesis Ectopic kidney Preauricular pit Joint laxity Pectus excavatum External ear malformation Hypothyroidism Lacrimal duct stenosis Cerebellar hypoplasia Short palm Abnormality of the outer ear High palate Overfolded helix Tooth abscess Microglossia Thin anteverted nares Vertebral hyperostosis 4-5 finger syndactyly Decreased antibody level in blood Abnormality iris morphology Narrow forehead 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Cranial hyperostosis Madelung deformity Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Macrocephaly Premature birth Ventriculomegaly Constipation Feeding difficulties in infancy Intellectual disability, moderate Leukemia Prominent nose Cafe-au-lait spot Recurrent respiratory infections Facial asymmetry Agenesis of corpus callosum Thrombocytopenia High pitched voice Recurrent infections Tachycardia Bruising susceptibility Cerebral atrophy Immunodeficiency Postural instability Behavioral abnormality Attention deficit hyperactivity disorder Abnormal diaphysis morphology Dry hair Premature loss of primary teeth Abnormality of the metaphysis Brittle hair Bilateral ptosis Spastic tetraparesis Abnormality of the fingernails Abnormality of dental enamel Spastic paraparesis Paraparesis Abnormality of the nail Dental crowding Hypoplasia of dental enamel Tetraparesis Aplasia/Hypoplasia of the cerebellum Fine hair Hypotelorism Cerebral calcification Overgrowth Underdeveloped nasal alae Palmoplantar keratoderma Paresthesia Paraplegia Hypotrichosis Abnormality of the cerebral white matter Spastic paraplegia Cubitus valgus Hyperostosis Pseudohypoparathyroidism Low hanging columella Selective tooth agenesis Trichorrhexis nodosa Short middle phalanx of the 5th finger Dehydration Slow-growing hair Neurogenic bladder Abnormality of the nose Abnormal cortical bone morphology Short hallux Few cafe-au-lait spots Fragile nails Abnormality of the ear Taurodontia Abnormality of the clavicle Hypoparathyroidism Narrow nose Premature loss of teeth Hyperactive deep tendon reflexes Curly hair Basal ganglia calcification Metaphyseal dysplasia High hypermetropia Progressive spasticity Otitis media Neonatal asphyxia Eczema Blue sclerae Patent foramen ovale Hyperextensible skin Cutis laxa Sandal gap Accelerated skeletal maturation Microretrognathia Joint dislocation Meningitis Rhizomelia Abnormal lung morphology Mitral regurgitation Cardiomegaly Spondyloepiphyseal dysplasia Congenital diaphragmatic hernia Mitral valve prolapse Esotropia Short metacarpal Recurrent fractures Thick eyebrow Arachnodactyly Genu valgum Pulmonic stenosis Pectus carinatum Cerebral cortical atrophy Radioulnar synostosis Metatarsus adductus Abnormality of the curvature of the vertebral column Lumbar scoliosis Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Knee dislocation Abnormality of the abdominal wall Bilateral talipes equinovarus Endocardial fibroelastosis Small face Generalized osteoporosis 11 pairs of ribs Overlapping fingers Abnormally large globe Upper limb undergrowth Aortic root aneurysm Restrictive ventilatory defect Congenital glaucoma Thoracic hypoplasia Fever Megakaryocyte dysplasia Coarctation of aorta Infantile muscular hypotonia Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Chorioretinal coloboma Ectropion Trigonocephaly Schizophrenia Tachypnea Wheezing Abnormal palate morphology Azoospermia Holoprosencephaly Horseshoe kidney Bone marrow hypocellularity Spina bifida Aortic valve stenosis Leukodystrophy Short toe Tapered finger Pancytopenia Transposition of the great arteries Bipolar affective disorder Congenital thrombocytopenia Abnormality of the head Bilateral camptodactyly Internal hemorrhage Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormal thrombocyte morphology Abnormal eyelash morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Diastasis recti Missing ribs Double outlet right ventricle Sinusitis Visual loss Camptodactyly of finger Abnormality of the renal collecting system Cochlear malformation Hypoplasia of the cochlea Renal steatosis Oral cleft Bilateral renal dysplasia Unilateral renal hypoplasia Euthyroid goiter Lacrimal duct aplasia Hyperlordosis Cleft lip Abnormality of the cerebrum Broad nasal tip Abnormal lacrimal duct morphology Malar flattening Kyphosis Incomplete partition of the cochlea type II Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Dilatated internal auditory canal Duodenal stenosis Iris atrophy Renal cyst Tetralogy of Fallot Skin erosion Aplasia cutis congenita Fingernail dysplasia Agenesis of cerebellar vermis Bifid nasal tip White forelock Hypoplastic fingernail Retinal coloboma Overbite Atypical scarring of skin Bilateral cleft lip Bilateral renal agenesis Hamartoma Renal malrotation Abnormality of the middle ear ossicles Supernumerary nipple Body odor Unilateral renal agenesis Anophthalmia Proximal placement of thumb Branchial cyst Nasal speech Deep philtrum Hemangioma Joint contracture of the hand Aplasia/Hypoplasia of the patella Acantholysis Everted upper lip vermilion Torticollis Nail dystrophy Corneal opacity Dilated cardiomyopathy Bulbous nose Erythema Skeletal dysplasia Delayed myelination Recurrent otitis media Hyperkeratosis Macular degeneration Widely spaced teeth Small hand Alopecia Diarrhea Vomiting Prominent occiput Congenital hypothyroidism Hypoplasia of teeth Patellar hypoplasia Anemia Epicanthus inversus Abnormal palmar dermatoglyphics Neoplasm Proteinuria Short foot Patellar aplasia Absent thumb Rectovaginal fistula Concave nasal ridge Poikiloderma Osteosarcoma Absent radius Proportionate short stature Aplasia/Hypoplasia of the thumb Cholesteatoma Increased number of teeth Skin vesicle Agenesis of permanent teeth Delayed eruption of teeth Basal cell carcinoma Squamous cell carcinoma Enlarged cochlear aqueduct Sarcoma Gustatory lacrimation Neoplasm of the skin Cardiomyopathy Telangiectasia Cutaneous photosensitivity Intellectual disability, severe Hypopigmentation of the skin Abnormality of the philtrum Polycoria Abnormality of the nervous system Hypoplastic nipples Pneumothorax Absent nipple Prominent superficial veins Abnormal eyelid morphology Sclerocornea Coronal craniosynostosis Abnormality of the skull Turricephaly Underdeveloped supraorbital ridges Protruding tongue Prematurely aged appearance Dermal translucency Paralysis Reduced subcutaneous adipose tissue Anonychia Bilateral cryptorchidism Tricuspid regurgitation Large hands Aortic aneurysm Redundant skin Coarse hair Long face Abnormality of the metacarpal bones Hypoplasia of the musculature Absence of subcutaneous fat Bifid uvula Dysarthria Deeply set eye Broad neck Arrhythmia Multiple bladder diverticula Ureterocele Blindness Edema Dysphagia Gait disturbance Renal insufficiency Hyperreflexia Recurrent aspiration pneumonia Visual impairment Cognitive impairment Facial palsy Ataxia Aplasia/Hypoplasia of the nasal bone Aplastic/hypoplastic lacrimal glands Congenital craniofacial dysostosis Hypoplasia of the abdominal wall musculature Wide nasal ridge Absent distal phalanges Upper eyelid coloboma Oligodontia Generalized hirsutism Lacrimal duct atresia Supraauricular pit Polycystic kidney dysplasia Cupped ear Epiphora Respiratory insufficiency Mixed hearing impairment Stenosis of the external auditory canal Lacrimation abnormality Ureteropelvic junction obstruction Fusion of middle ear ossicles Ectopic thymus tissue Upper lip pit Renal hypoplasia/aplasia Duplication of internal organs Malrotation of colon Postauricular pit Enlarged vestibular aqueduct Short nasal septum Auricular pit Lower lip pit Branchial anomaly Hypoplastic superior helix Small forehead Dermoid cyst Atresia of the external auditory canal Micropenis Low anterior hairline Triangular face Wide anterior fontanel Vesicoureteral reflux Recurrent urinary tract infections Heterotopia Hypertrichosis Sparse scalp hair Small nail Cerebellar vermis hypoplasia Pulmonary arterial hypertension Convex nasal ridge Sepsis Hypoplasia of the maxilla Narrow face High, narrow palate Short distal phalanx of finger Astigmatism Bilateral sensorineural hearing impairment Synophrys Renal hypoplasia Platyspondyly Broad forehead Atrial fibrillation Renal dysplasia Preauricular skin tag Bilateral elbow dislocations



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