Depressed nasal bridge, and Myopia

Diseases related with Depressed nasal bridge and Myopia

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Myopia that can help you solving undiagnosed cases.

Top matches:

Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.

WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous otospondylomegaepiphyseal dysplasia|heterozygous osmed|pierre robin sequence-fetal chondrodysplasia syndrome|pierre robin syndrome-fetal chondrodysplasia syndrome

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia
  • Cleft palate
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about WEISSENBACHER- ZWEYMULLER SYNDROME

Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY

Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).

GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME Is also known as gemss|mesodermal dysmorphodystrophy, congenital|gemss syndrome|weill-marchesani syndrome, autosomal dominant|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). Genetic Heterogeneity of Weill-Marchesani SyndromeA phenotypically similar, autosomal dominant form of WMS (WMS2 ) is caused by mutation in the FBN1 gene (OMIM ) on chromosome 15q21. Autosomal recessive WMS3 (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) on chromosome 14q24. Autosomal recessive WMS4 (OMIM ) is caused by mutation in the ADAMTS17 gene (OMIM ) on chromosome 15q24.

WEILL-MARCHESANI SYNDROME 1; WMS1 Is also known as weill-marchesani syndrome, autosomal recessive|mesodermal dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 1; WMS1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Myopia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Depressed nasal bridge and Myopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Hearing impairment Strabismus Brachycephaly Sensorineural hearing impairment Hypertelorism Anteverted nares Patent ductus arteriosus Midface retrusion Generalized hypotonia Wide nasal bridge Intellectual disability, mild Microcephaly Seizures Synophrys Low-set ears Abnormal heart morphology Micrognathia Short stature Joint stiffness Pulmonic stenosis Glaucoma

Rare Symptoms - Less than 30% cases

Narrow forehead Downslanted palpebral fissures Macrocephaly Epicanthus Ptosis Cryptorchidism Growth delay Downturned corners of mouth Broad phalanges of the hand Abnormality of the hair Broad skull Ectopia lentis Ventricular septal defect Blindness Hypoplasia of the maxilla High myopia Lumbar hyperlordosis Mitral regurgitation Thickened skin Aortic valve stenosis Kyphosis Narrow palate Abnormality of dental morphology Microspherophakia Broad palm Proportionate short stature Spinal canal stenosis Shallow orbits Misalignment of teeth Broad ribs Thin bony cortex Shallow anterior chamber Broad metatarsal Broad metacarpals Astigmatism Brachydactyly Broad forehead Thin upper lip vermilion Mitral valve prolapse Joint hypermobility Pectus carinatum Malar flattening Feeding difficulties Long philtrum Glossoptosis Hypoplasia of the corpus callosum Muscular hypotonia Attention deficit hyperactivity disorder Cleft palate Hyperactivity Broad-based gait Protruding ear Osteoporosis Short nose Absent speech Hyporeflexia Cerebellar hypoplasia Agenesis of corpus callosum Gait ataxia Kyphoscoliosis Distal muscle weakness Choreoathetosis Talipes Sparse eyebrow Brittle hair Sparse eyelashes High palate Dysmetria Inability to walk Dandy-Walker malformation Generalized-onset seizure Fine hair Abnormal autonomic nervous system physiology Nystagmus Telecanthus Microphthalmia Short finger Hyperreflexia Visual impairment Spasticity Failure to thrive Ataxia Hypoplasia of the uterus Increased circulating gonadotropin level Optic atrophy Congenital ptosis Abnormal lacrimal duct morphology Impaired mastication Unilateral ptosis Female infertility Abnormality of the breast Cupped ear Tremor Hernia Dystonia Premature atrial contractions Camptodactyly Blepharophimosis Hypermetropia Infertility Microcornea Amenorrhea Premature ovarian insufficiency Abnormality of the dentition Congenital diaphragmatic hernia Primary amenorrhea Narrow palpebral fissure Cerebellar atrophy Talipes equinovarus Holoprosencephaly Epicanthus inversus Tapered finger Slender finger Deeply set eye Abnormal vitreous humor morphology Abnormal metacarpal morphology Short neck Behavioral abnormality Constipation Posteriorly rotated ears Prominent forehead Coarse facial features Anxiety Exostoses Aggressive behavior Abnormality of the pinna Bulbous nose Thick eyebrow Hirsutism Sleep disturbance Full cheeks Agitation Pierre-Robin sequence Arthropathy Motor delay Abnormality of the mandible Proptosis Conductive hearing impairment Muscular hypotonia of the trunk Rhizomelia Delayed gross motor development Metaphyseal widening Short femur Coronal cleft vertebrae Submucous cleft soft palate Long fingers Mild neurosensory hearing impairment Pectus excavatum Arthralgia Retinopathy Arachnodactyly Retinal detachment Bifid uvula Osteoarthritis Spondyloepiphyseal dysplasia Inverted nipples Cardiomyopathy Obsessive-compulsive behavior Abnormality of the skeletal system Nephritis Glomerulopathy Increased number of teeth Microscopic hematuria Abnormal aortic valve morphology Elliptocytosis Craniopharyngioma Erythrocyte cylindruria Hypospadias Hematuria Upslanted palpebral fissure Autism Hyperlordosis Poor speech Smooth philtrum Dental crowding Low anterior hairline Drooling Abnormality of the metaphysis Thick vermilion border Edema Relative macrocephaly Hyperkeratosis High forehead Hypertrophic cardiomyopathy Sparse hair Leukemia Webbed neck Growth hormone deficiency Cafe-au-lait spot Bilateral ptosis Thin vermilion border Curly hair Broad neck Asymmetry of the thorax Long eyebrows Juvenile myelomonocytic leukemia Intellectual disability, severe Renal insufficiency Proteinuria Stage 5 chronic kidney disease Hand clenching


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Burkitt lymphoma, related diseases and genetic alterations Brachydactyly and Autoimmunity, related diseases and genetic alterations Depressed nasal bridge and Neonatal hypotonia, related diseases and genetic alterations