Depressed nasal bridge, and Midface retrusion

Diseases related with Depressed nasal bridge and Midface retrusion

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27; MRT27


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27; MRT27

High match PFEIFFER SYNDROME TYPE 1


Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.

PFEIFFER SYNDROME TYPE 1 Is also known as classic pfeiffer syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Low-set ears
  • High palate
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 1

High match HOLOPROSENCEPHALY 3; HPE3


HOLOPROSENCEPHALY 3; HPE3 Is also known as hlp3

Related symptoms:

  • Microcephaly
  • Strabismus
  • Ptosis
  • Depressed nasal bridge
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 3; HPE3

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS


LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

High match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

High match ATELOSTEOGENESIS TYPE III


Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

High match MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME


A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

High match FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3


HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

High match OSTEOGENESIS IMPERFECTA, TYPE XII; OI12


Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

High match STICKLER SYNDROME TYPE 3


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

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Midface retrusion

Symptoms // Phenotype % cases
Micrognathia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Generalized hypotonia Microcephaly Anteverted nares Short nose Hypertelorism Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Recurrent infections Failure to thrive Abnormal facial shape Pectus carinatum Hypermetropia Pneumonia Intellectual disability Cataract Facial asymmetry Strabismus Scoliosis Cleft palate Frontal bossing Seizures Long philtrum Ptosis Immunodeficiency Low-set ears Thoracic platyspondyly Long fingers Combined immunodeficiency Biparietal narrowing Severe combined immunodeficiency Increased head circumference Postnatal macrocephaly Delayed speech and language development Arthropathy Epicanthus Dysarthria Dysphagia Posteriorly rotated ears Facial palsy Paralysis Spondyloepiphyseal dysplasia Lymphopenia Glossoptosis Mitral valve prolapse Autism Tombstone-shaped proximal phalanges Neoplasm Fever Macrocephaly Abnormal vitreous humor morphology Obesity Hepatosplenomegaly Exostoses Autistic behavior Attention deficit hyperactivity disorder Broad forehead Lymphadenopathy Pierre-Robin sequence Decreased antibody level in blood Pancytopenia Osteoarthritis Smooth philtrum Myopia Wormian bones Protruding ear Arthralgia Platyspondyly Delayed eruption of teeth Recurrent fractures Increased bone mineral density Progressive hearing impairment Narrow mouth Prominent supraorbital ridges Glaucoma Increased susceptibility to fractures Mixed hearing impairment Generalized osteoporosis Dentinogenesis imperfecta Pectus excavatum Osteopenia Retinopathy Downturned corners of mouth Short stature Esotropia High hypermetropia Facial diplegia Facial paralysis High-frequency hearing impairment Esophoria Accommodative esotropia Motor delay Arachnodactyly Abnormality of cardiovascular system morphology Prominent forehead Osteoporosis Bifid uvula Retinal detachment Cervical segmentation defect Joint hypermobility Widened distal phalanges Severe short stature Horizontal sacrum Holoprosencephaly Dilatation Hydronephrosis Coloboma Astigmatism Microcornea Hypotelorism Exotropia Hypoplasia of the fovea Bicoronal synostosis Abnormality of the nose Single median maxillary incisor Cyclopia Proboscis Abdominal situs ambiguus Muscular hypotonia of the trunk Eczema Microphthalmia Hallux varus Wide anterior fontanel High forehead Growth delay Hyperreflexia Absent speech Aggressive behavior Poor speech Brachycephaly Proptosis Finger syndactyly Aqueductal stenosis Toe syndactyly Short palm Short foot Broad thumb Aplasia/Hypoplasia of the thumb Short hallux Broad hallux phalanx Abnormal lung morphology Failure to thrive in infancy Hitchhiker thumb Sandal gap Left ventricular noncompaction Hyperalaninemia Talipes equinovarus Short neck Skeletal dysplasia Hypoplasia of the maxilla Rhizomelia Disproportionate short-limb short stature Increased serum lactate Elbow dislocation Prominent occiput Tibial bowing Radial bowing Flat acetabular roof Knee dislocation Cervical kyphosis Neuronal loss in central nervous system Gliosis Emphysema Bronchiolitis obliterans Chromosome breakage Mild global developmental delay Prominent superficial veins Bronchiolitis Dermal translucency Abnormality of the thymus Increased sensitivity to ionizing radiation Cardiomyopathy Bulbous nose Hypertonia Acidosis Deeply set eye Hypertrophic cardiomyopathy Wide mouth Dilated cardiomyopathy Lactic acidosis Abnormal metacarpal morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Diabetes mellitus, related diseases and genetic alterations Fever and Agenesis of corpus callosum, related diseases and genetic alterations Lymphoma and Sinusitis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more