Depressed nasal bridge, and Macrocephaly

Diseases related with Depressed nasal bridge and Macrocephaly

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


Top matches:

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 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 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

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Other less relevant matches:

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 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

High match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

High match CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD


Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD

High match 20P12.3 MICRODELETION SYNDROME


20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

20P12.3 MICRODELETION SYNDROME Is also known as del(20)(p12.3)|monosomy 20p12.3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 20P12.3 MICRODELETION SYNDROME

High match LENNOX-GASTAUT SYNDROME


Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

High match CRANIOMETAPHYSEAL DYSPLASIA


Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA

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

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Craniofacial hyperostosis Conductive hearing impairment Optic atrophy Ptosis Hyperostosis Abnormal facial shape Seizures

Rare Symptoms - Less than 30% cases


Broad forehead Downslanted palpebral fissures Diaphyseal sclerosis Mandibular prognathia Facial hyperostosis Intellectual disability, severe Posteriorly rotated ears Autistic behavior High forehead Short nose Long philtrum Midface retrusion Relative macrocephaly Oral cleft Hearing impairment Respiratory distress Flared metaphysis Coarse facial features Polydactyly Postaxial polydactyly Full cheeks Ventriculomegaly Atrial septal defect Malar flattening Narrow mouth Microtia Pectus carinatum Hypoplasia of the maxilla Broad hallux phalanx Broad thumb Epicanthus Wolff-Parkinson-White syndrome Thickened helices Low-set ears Dysphagia Hypoplasia of the corpus callosum Abnormality of the dentition Behavioral abnormality Cranial nerve compression Epiphora Muscular hypotonia Papilledema Headache Club-shaped distal femur Genu valgum Progressive visual loss Choanal atresia Increased bone mineral density Increased intracranial pressure Elevated alkaline phosphatase Hyperparathyroidism Facial diplegia Cerebral atrophy Choanal stenosis Bony paranasal bossing Concave nasal ridge Elevated circulating parathyroid hormone level Parathyroid adenoma Bilateral conductive hearing impairment Craniofacial osteosclerosis Thickened ribs Cortical sclerosis Asymmetry of the mandible Myoclonus Encephalopathy Skeletal dysplasia Personality disorder Atypical absence seizures Frontotemporal cerebral atrophy CNS infection EEG with focal sharp slow waves Sensorineural hearing impairment Visual impairment Visual loss Telecanthus Generalized tonic seizures Facial palsy Abnormality of the metaphysis Abnormal cranial nerve morphology Osteopetrosis Prominent supraorbital ridges Metaphyseal dysplasia Metaphyseal widening Mixed hearing impairment Abnormality of the thorax Abnormality of brainstem morphology Nasal obstruction Recurrent respiratory infections Focal-onset seizure Hyperactivity Gastroesophageal reflux EEG abnormality Aggressive behavior Mental deterioration Generalized tonic-clonic seizures Falls Generalized myoclonic seizures Epileptic encephalopathy Nasolacrimal duct obstruction Abnormality of the nasopharynx Gingival overgrowth Intellectual disability, progressive Sclerosis of skull base Broad alveolar ridges Atonic seizures Delayed eruption of permanent teeth Abnormality of the periventricular white matter Enlarged cisterna magna Tented upper lip vermilion Microcornea Exencephaly Recurrent infections Metopic synostosis Abnormality of the skull base Absent/hypoplastic paranasal sinuses Premature posterior fontanelle closure Prominent palatine ridges Aplasia/Hypoplasia of the frontal sinuses Neoplasm Fever Immunodeficiency Obesity Abnormality of the thyroid gland Pneumonia Autism Hepatosplenomegaly Attention deficit hyperactivity disorder Lymphadenopathy Decreased antibody level in blood Pancytopenia Lymphopenia Combined immunodeficiency Epicanthus inversus Wide anterior fontanel Severe combined immunodeficiency Oculomotor apraxia Ataxia Nystagmus Dysarthria Intellectual disability, mild Polymicrogyria Abnormal cerebellum morphology Apraxia Cerebellar vermis hypoplasia Tall stature Large for gestational age Broad nasal tip Molar tooth sign on MRI Elongated superior cerebellar peduncle Abnormality of the ribs Stenosis of the external auditory canal Diaphyseal thickening Diaphyseal dysplasia Intrauterine growth retardation Abnormality of the kidney Small for gestational age Biparietal narrowing Increased head circumference Small posterior fossa Exotropia Microphthalmia Upslanted palpebral fissure Macrotia Coloboma Hypermetropia Synophrys Astigmatism Narrow forehead Hypotelorism Holoprosencephaly Anteverted nares Deep philtrum Trigonocephaly Absent thumb Abnormality of digit Facial cleft Scaphocephaly Single median maxillary incisor Cyclopia Proboscis Hydrocephalus Abnormality of the skeletal system Postnatal macrocephaly Pulmonary hypoplasia Failure to thrive Hepatomegaly Brachydactyly Ventricular septal defect Respiratory insufficiency Syndactyly Polyhydramnios Cleft lip Narrow chest Ambiguous genitalia High palate Short ribs Short long bone Preaxial polydactyly Femoral bowing Thoracic dysplasia Lateral clavicle hook Pancreatic fibrosis Acetabular spurs Microcephaly Cleft palate Patchy sclerosis of finger phalanx



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