Depressed nasal bridge, and Frontal bossing
Diseases related with Depressed nasal bridge and Frontal bossing
In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Frontal bossing that can help you solving undiagnosed cases.
Top matches:
Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).
Related symptoms:
- Scoliosis
- Depressed nasal bridge
- Brachydactyly
- Frontal bossing
- Kyphosis
SOURCES:
ORPHANET
MENDELIAN
More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
Related symptoms:
- Intellectual disability
- Short stature
- Depressed nasal bridge
- Wide nasal bridge
- Optic atrophy
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about CRANIODIAPHYSEAL DYSPLASIA
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
2P21 MICRODELETION SYNDROME Is also known as 2p21 deletion syndrome|monosomy 2p21|del(2)(p21)
Related symptoms:
- Seizures
- Global developmental delay
- Growth delay
- Failure to thrive
- Muscular hypotonia
SOURCES:
ORPHANET
MENDELIAN
More info about 2P21 MICRODELETION SYNDROME
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Other less relevant matches:
JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Ataxia
- Hypertelorism
SOURCES:
OMIM
MENDELIAN
More info about JOUBERT SYNDROME 32; JBTS32
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
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
Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (OMIM ).
AUTOSOMAL DOMINANT OMODYSPLASIA Is also known as omodysplasia, autosomal dominant
Related symptoms:
- Hypertelorism
- Micrognathia
- Cryptorchidism
- Depressed nasal bridge
- Frontal bossing
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about AUTOSOMAL DOMINANT OMODYSPLASIA
Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.
FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism
Related symptoms:
- Hypertelorism
- Nystagmus
- Strabismus
- Cryptorchidism
- Low-set ears
SOURCES:
ORPHANET
MENDELIAN
More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME
Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Frontal bossing
Symptoms // Phenotype |
% cases |
Hypertelorism |
Uncommon - Between 30% and 50% cases
|
Global developmental delay |
Uncommon - Between 30% and 50% cases
|
Macrocephaly |
Uncommon - Between 30% and 50% cases
|
Severe short stature |
Uncommon - Between 30% and 50% cases
|
Intellectual disability |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Depressed nasal bridge and Frontal bossing. may also develop some of the following symptoms:
Rare Symptoms - Less than 30% cases
Abnormal facial shape
Growth delay
Hypogonadism
Intellectual disability, moderate
Cryptorchidism
Micrognathia
Intrauterine growth retardation
High forehead
Small for gestational age
Long philtrum
Nystagmus
Midface retrusion
Skeletal dysplasia
Short nose
Seizures
Talipes equinovarus
Anteverted nares
Recurrent infections
Malar flattening
Elbow dislocation
Telecanthus
Disproportionate short-limb short stature
Rhizomelia
Hypoplasia of the maxilla
Intellectual disability, mild
Scoliosis
Short stature
Brachydactyly
Dislocated radial head
Cervical segmentation defect
Flat acetabular roof
Knee dislocation
Cervical kyphosis
Hitchhiker thumb
Horizontal sacrum
Tombstone-shaped proximal phalanges
Widened distal phalanges
Tibial bowing
Neoplasm
Fever
Agenesis of corpus callosum
Alopecia
Radial bowing
Prominent occiput
Abnormality of the dentition
Upslanted palpebral fissure
Brachycephaly
Underdeveloped nasal alae
Oligohydramnios
Fine hair
Encephalocele
Scrotal hypoplasia
Coronal craniosynostosis
Sandal gap
Calvarial skull defect
Conical tooth
Broad philtrum
Agenesis of cerebellar vermis
Short neck
Microphthalmia
Immunodeficiency
Short humerus
Severe combined immunodeficiency
Patellar dislocation
Short 1st metacarpal
Bifid scrotum
Hypoplasia of penis
Large forehead
Ambiguous genitalia
Bifid nasal tip
Short palm
Micropenis
Hypospadias
Abnormality of the skeletal system
Rhizomelic arm shortening
Postnatal macrocephaly
Increased head circumference
Biparietal narrowing
Obesity
Lymphadenopathy
Pneumonia
Autism
Hepatosplenomegaly
Autistic behavior
Attention deficit hyperactivity disorder
Broad forehead
Decreased antibody level in blood
Hypoplastic distal humeri
Low-set ears
Pancytopenia
Strabismus
Lymphopenia
Limited elbow flexion/extension
Combined immunodeficiency
Cleft palate
Proptosis
Anisopoikilocytosis
Facial hyperostosis
Flared metaphysis
Stenosis of the external auditory canal
Craniofacial hyperostosis
Diaphyseal thickening
Diaphyseal sclerosis
Diaphyseal dysplasia
Failure to thrive
Abnormality of the ribs
Muscular hypotonia
Hypoglycemia
Low-set, posteriorly rotated ears
Lactic acidosis
Decreased fetal movement
Long eyelashes
Nephrolithiasis
Hyperostosis
Conductive hearing impairment
Nasal speech
Bowing of the long bones
Kyphosis
Prominent forehead
Hyperlordosis
Joint stiffness
Dolichocephaly
Joint hyperflexibility
Abnormal form of the vertebral bodies
Disproportionate short stature
Coarse facial features
Sprengel anomaly
Beaking of vertebral bodies
Ovoid vertebral bodies
Vertebral wedging
Acromesomelia
Wide nasal bridge
Optic atrophy
Hypocalcemia
Cystinuria
Spotty hypopigmentation
Anemia
Cerebellar vermis hypoplasia
Tall stature
Oculomotor apraxia
Large for gestational age
Molar tooth sign on MRI
Elongated superior cerebellar peduncle
Microcephaly
Osteopenia
Abnormal cerebellum morphology
Sparse hair
Talipes
Short distal phalanx of finger
Hypopigmentation of the skin
Sparse and thin eyebrow
Hypopigmented skin patches
Profound global developmental delay
Apraxia
Postaxial polydactyly
Mitochondrial respiratory chain defects
Metopic synostosis
Ptosis
Posteriorly rotated ears
Abnormality of the kidney
Broad nasal tip
Wide anterior fontanel
Abnormality of the thyroid gland
Epicanthus inversus
Abnormality of the skull base
Polymicrogyria
Absent/hypoplastic paranasal sinuses
Premature posterior fontanelle closure
Prominent palatine ridges
Aplasia/Hypoplasia of the frontal sinuses
Ataxia
Dysarthria
Polydactyly
Bifid nose
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