Depressed nasal bridge, and Proptosis

Diseases related with Depressed nasal bridge and Proptosis

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


Top matches:

High match SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME


Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration|kosaki overgrowth syndrome

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Ptosis
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

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 WEISSENBACHER- ZWEYMULLER SYNDROME


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

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Other less relevant matches:

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 CHITAYAT SYNDROME; CHYTS


Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

High match JACKSON-WEISS SYNDROME; JWS


JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

High match FAMILIAL LAMBDOID SYNOSTOSIS


Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

High match GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME


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

High match PFEIFFER SYNDROME TYPE 2


Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

High match WEILL-MARCHESANI SYNDROME 1; WMS1


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

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

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Short nose Hypoplasia of the maxilla Low-set ears Finger syndactyly Myopia Broad thumb Frontal bossing Brachycephaly High forehead Cleft palate Malar flattening Hydrocephalus Shallow orbits Broad metatarsal Hallux varus Broad hallux phalanx

Rare Symptoms - Less than 30% cases


Glaucoma Abnormal heart morphology Joint stiffness Patent ductus arteriosus Mitral regurgitation Thickened skin Lumbar hyperlordosis High myopia Pulmonic stenosis Ventricular septal defect Blindness Global developmental delay Cataract Abnormal facial shape Short stature Telecanthus Increased intracranial pressure Respiratory distress Syndactyly Small hand Retrognathia Craniofacial dysostosis Anterior plagiocephaly Tracheomalacia Aortic valve stenosis Intellectual disability, mild Narrow palate Misalignment of teeth Ptosis Prominent forehead Delayed speech and language development Broad phalanges of the hand Broad skull Microspherophakia Broad metacarpals Shallow anterior chamber Thin bony cortex Broad ribs Craniosynostosis Spinal canal stenosis Toe syndactyly Proportionate short stature Short foot Broad palm Short hallux Abnormality of dental morphology Aqueductal stenosis Ectopia lentis High palate Muscular hypotonia Symphalangism affecting the phalanges of the hand Preaxial foot polydactyly Arnold-Chiari malformation Abnormality of fibula morphology Atresia of the external auditory canal Laryngomalacia Calcaneonavicular fusion Turricephaly 2-3 toe syndactyly Split foot Cloverleaf skull Underdeveloped supraorbital ridges Broad hallux Macrocephaly Deviation of the thumb Short metatarsal Abnormal palate morphology Osteoporosis Acanthosis nigricans Epidermal acanthosis Convex nasal ridge Spasticity Facial asymmetry Hypertonia Arnold-Chiari type I malformation Posterior plagiocephaly Pansynostosis Diminished ability to concentrate Round ear Seizures Prominent scalp veins Ectopic posterior pituitary Lambdoidal craniosynostosis Dimple chin Stomatocytosis External ear malformation Choanal atresia Flat occiput Optic nerve hypoplasia Visual loss Anal atresia Microretrognathia Limitation of joint mobility Intestinal malrotation Downturned corners of mouth Blepharophimosis Protruding ear Plagiocephaly Interstitial pulmonary abnormality Genu valgum Rhizomelia Aplasia/Hypoplasia of the thumb Bicoronal synostosis Micrognathia Hyperactivity Conductive hearing impairment Muscular hypotonia of the trunk Attention deficit hyperactivity disorder Delayed gross motor development Hearing impairment Metaphyseal widening Glossoptosis Short femur Coronal cleft vertebrae Abnormality of the mandible Submucous cleft soft palate Mild neurosensory hearing impairment Microcephaly Short palm Auditory hallucinations Anemia Thin skin Wide nasal bridge Downslanted palpebral fissures Depressivity Thin upper lip vermilion Anxiety Overgrowth Cerebral calcification Progressive neurologic deterioration Tall stature Xanthelasma Hallucinations Pointed chin Hyperextensible skin Prominent supraorbital ridges Narrow nasal bridge Fragile skin Thoracolumbar scoliosis Long foot Growth delay Talipes equinovarus Abnormality of the pinna Abnormality of digit Highly arched eyebrow Tachypnea Abnormality of the hand Short middle phalanx of finger Hallux valgus Neoplasm Exertional dyspnea Short columella Abnormality of the foot Bronchomalacia Parietal bossing Bronchospasm Intercostal retractions Strabismus Abnormality of the skeletal system Headache Mandibular prognathia Thick vermilion border Respiratory tract infection Recurrent infections Hypopigmented skin patches Severe short stature Osteopenia Sparse hair Small for gestational age Talipes Short distal phalanx of finger Hypopigmentation of the skin Sparse and thin eyebrow Profound global developmental delay Polyhydramnios Spotty hypopigmentation Anisopoikilocytosis Generalized hypotonia Long philtrum Pectus excavatum Clinodactyly Recurrent respiratory infections Dyspnea Mitral valve prolapse



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