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:

High match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE


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

High match CRANIODIAPHYSEAL DYSPLASIA


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

High match 2P21 MICRODELETION SYNDROME


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:

High match SIX2-RELATED FRONTONASAL DYSPLASIA


SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

High match JOUBERT SYNDROME 32; JBTS32


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

High match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

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 AUTOSOMAL DOMINANT OMODYSPLASIA


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

High match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME


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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