Micrognathia, and High myopia

Diseases related with Micrognathia and High myopia

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

Top matches:

Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012).For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Myopia
  • Macrocephaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about FIBROCHONDROGENESIS 2; FBCG2

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Other less relevant matches:

Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 Is also known as multiple contracture syndrome, israeli-bedouin type|lccs2|multiple contracture syndrome, israeli bedouin type a

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • Myopia
  • Skeletal muscle atrophy
  • Ventricular septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2

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 DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

High match KNIEST DYSPLASIA

Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Top 5 symptoms//phenotypes associated to Micrognathia and High myopia

Symptoms // Phenotype % cases
Myopia Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anteverted nares Platyspondyly Cataract Short neck Glossoptosis Sensorineural hearing impairment Downslanted palpebral fissures Hypertelorism Short stature Megalocornea Pectus carinatum Low-set ears Proptosis Vitreoretinopathy Micromelia Rhizomelia Wide nasal bridge Bell-shaped thorax Dumbbell-shaped long bone Flexion contracture Skeletal dysplasia Short nose

Rare Symptoms - Less than 30% cases

Severe global developmental delay Congenital cataract Gait disturbance Visual impairment Cryptorchidism Muscular hypotonia Strabismus Glaucoma Microcytic anemia Joint stiffness Long philtrum Abnormality of the metaphysis Round face Severe short stature Depressed nasal bridge Inguinal hernia Syndactyly Enlarged thorax Webbed neck Long toe Neonatal respiratory distress Ectopia lentis Mitral regurgitation Motor delay Intellectual disability Hypoplastic toenails Microcephaly Clinodactyly of the 5th finger Arthropathy Hypoplastic ischia Brachydactyly Short ribs Thoracic hypoplasia Protuberant abdomen Hypoplastic ilia Hypoplastic scapulae Narrow chest Osteoarthritis Respiratory insufficiency Metaphyseal cupping Retinal detachment Frontal bossing Pectus excavatum Macrocephaly Wide anterior fontanel Metaphyseal widening Scoliosis Low posterior hairline Hypodontia Kyphosis Dental malocclusion Respiratory distress Hip dysplasia Abnormality of the skeletal system Preauricular skin tag Hypoplasia of dental enamel Pain Hypoparathyroidism Down-sloping shoulders Sparse lateral eyebrow Smooth philtrum Ptosis Moderate global developmental delay Hypochromic anemia Short 2nd finger Tapered finger Respiratory failure Craniosynostosis Tricuspid valve prolapse Adducted thumb Cupped ribs Heart murmur Hypoplastic pubic bone Tricuspid regurgitation Emphysema Long fingers Lipoatrophy Aortic root aneurysm Hypoxemia Abnormal echocardiogram Ascending tubular aorta aneurysm Iridodonesis Wide mouth Abnormal cardiac ventricle morphology Talipes calcaneovarus Crumpled ear Increased arm span High palate Dysphagia Atrial septal defect Clinodactyly Upslanted palpebral fissure Brachycephaly Osteopenia Developmental regression Depressivity Hyperlordosis Retrognathia Hearing abnormality Short foot Limb undergrowth Abnormality of the ribs Abnormal form of the vertebral bodies Omphalocele Hydrops fetalis Joint contracture of the hand Plagiocephaly Short long bone Patent foramen ovale Thin ribs Fibular hypoplasia Hypoplastic fingernail Short palm Bifid tongue Broad ribs Abnormal diaphysis morphology Long clavicles Anterior rib cupping Broad long bones Narrow greater sacrosciatic notches Thin clavicles Posterior rib cupping Broad ischia Pear-shaped vertebrae Widely patent coronal suture Posterior vertebral hypoplasia Small hand Flat face Umbilical hernia Delayed epiphyseal ossification Conductive hearing impairment Retinopathy Hip dislocation Recurrent otitis media Abnormality of epiphysis morphology Joint dislocation Coxa vara Spondyloepiphyseal dysplasia Flared metaphysis Short thorax Chorioretinal atrophy Hip contracture Tracheomalacia Tracheal stenosis Camptodactyly of finger Hypoplastic pelvis Disproportionate short-trunk short stature Enlarged joints Coronal cleft vertebrae Lens luxation Rhegmatogenous retinal detachment Lumbar kyphoscoliosis Splayed epiphyses Flattened, squared-off epiphyses of tubular bones Abnormal cartilage collagen Narrow mouth Camptodactyly Abnormality of the pinna Cutis laxa Joint hypermobility Blue sclerae Muscular dystrophy Microphthalmia Dilatation Elevated serum creatine phosphokinase Cerebellar hypoplasia Agenesis of corpus callosum Myoclonus Femoral bowing EEG abnormality Neonatal hypotonia Pallor Coloboma Neurological speech impairment Premature birth Myopathy Abnormality of the cerebral white matter Abnormality of movement Retinal degeneration Polymicrogyria Everted lower lip vermilion Generalized muscle weakness Intellectual disability, profound Encephalocele Pachygyria EMG abnormality Opacification of the corneal stroma Severe muscular hypotonia Holoprosencephaly Hypertonia Intellectual disability, severe Aplasia/Hypoplasia of the corpus callosum Edema Hydronephrosis Facial palsy Dilated cardiomyopathy Arthrogryposis multiplex congenita Decreased fetal movement Pterygium Congenital contracture Akinesia Fetal akinesia sequence Limb joint contracture Multiple pterygia Degenerative vitreoretinopathy Seizures Hydrocephalus Global developmental delay Generalized hypotonia Nystagmus Ventricular septal defect Muscle weakness Skeletal muscle atrophy Upper airway obstruction Spasticity Cognitive impairment Short femur Optic atrophy Ventriculomegaly Hypoplasia of the corpus callosum Lissencephaly Infantile muscular hypotonia Mitral valve prolapse Abnormality of the elbow Low-set, posteriorly rotated ears Abnormal joint morphology Anal atresia Epiphyseal dysplasia Convex nasal ridge Hypoplasia of penis Bilateral single transverse palmar creases Abnormality of the fingernails Polycystic ovaries Non-midline cleft lip Iron deficiency anemia Increased serum ferritin Ectopic anus Macrotia Nuclear cataract Pulverulent cataract Abnormality of the eye Feeding difficulties Arthralgia Hyporeflexia Deeply set eye Small for gestational age Dolichocephaly Arachnodactyly Polyhydramnios High, narrow palate Decreased testicular size Photophobia Abnormality of cardiovascular system morphology Optic nerve hypoplasia Decreased light- and dark-adapted electroretinogram amplitude Abnormality of the voice Congenital muscular dystrophy Aplasia/Hypoplasia of the cerebellum Hypoplasia of the brainstem Hemiplegia/hemiparesis Cortical dysplasia Congenital glaucoma Retinal atrophy Meningocele Retinal dysplasia Hypoplasia of the pons Undetectable electroretinogram Buphthalmos Cerebellar dysplasia Exostoses Type II lissencephaly Cerebellar cyst Hypoglycosylation of alpha-dystroglycan Uncontrolled eye movements Hypoplasia of the retina Short nasal bridge Enlarged flash visual evoked potentials Enlarged epiphyses Premature osteoarthritis Anemia Cleft soft palate Intrauterine growth retardation Pierre-Robin sequence Widely patent sagittal suture


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