Depressed nasal bridge, and Hypoplasia of the maxilla

Diseases related with Depressed nasal bridge and Hypoplasia of the maxilla

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

Top matches:

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

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

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

Other less relevant matches:

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

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

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

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

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

AXENFELD-RIEGER SYNDROME Is also known as axenfeld syndrome|anterior chamber cleavage syndrome|rieger syndrome, type 3|rieger syndrome|axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AXENFELD-RIEGER SYNDROME

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

High match ACRODYSOSTOSIS

Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.

ACRODYSOSTOSIS Is also known as acrodysplasia|arkless-graham syndrome|maroteaux-malamut syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Hypoplasia of the maxilla

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Malar flattening Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Midface retrusion Short stature Wide nasal bridge Shallow orbits Scoliosis Hearing impairment Broad metatarsal Brachydactyly Patent ductus arteriosus Abnormal heart morphology Glaucoma Spinal canal stenosis Depressed nasal ridge Brachycephaly Micrognathia

Rare Symptoms - Less than 30% cases

Bilateral sensorineural hearing impairment Myopia Pulmonic stenosis Joint stiffness Sensorineural hearing impairment Ptosis Intellectual disability, mild Blindness Ventricular septal defect Downslanted palpebral fissures Lumbar hyperlordosis Cataract Clinodactyly Narrow mouth Short metatarsal Mandibular prognathia Proptosis Telecanthus Broad hallux phalanx High myopia Thickened skin Mitral regurgitation Broad metacarpals Delayed eruption of teeth Microdontia Hypodontia Everted lower lip vermilion Prominent forehead Broad phalanges of the hand Broad skull Microspherophakia Shallow anterior chamber Epicanthus Thin bony cortex Broad ribs Misalignment of teeth Proportionate short stature Broad palm Ectopia lentis Narrow palate Aortic valve stenosis Atrial septal defect Abnormality of dental morphology Severe short stature Elbow dislocation Skeletal dysplasia Cleft palate Hypospadias Long philtrum Rhizomelia Disproportionate short-limb short stature Abnormality of the skeletal system Cryptorchidism Thin skin Sparse scalp hair Eczema Short distal phalanx of finger Underdeveloped nasal alae Ectodermal dysplasia High, narrow palate Hypohidrosis Thick vermilion border Sparse and thin eyebrow Hoarse voice Type I diabetes mellitus Short chin Sparse eyelashes Bifid scrotum Hypotrichosis Dry skin Retinal vein occlusion Ectopia pupillae Concave nasal ridge Peters anomaly Anterior segment developmental abnormality Abnormality of the hypothalamus-pituitary axis Abnormal anterior chamber morphology Rieger anomaly Aplasia/Hypoplasia of the iris Ureteral stenosis Hypoplastic iris stroma Feeding difficulties Prominent supraorbital ridges Hypertension Fever Respiratory distress Intellectual disability, severe Abnormality of the dentition Immunodeficiency Recurrent respiratory infections Hyperhidrosis Respiratory tract infection Sparse hair Dysphonia Anhidrosis Brittle hair Abnormality of the metacarpal bones Anteverted nares Hypogonadism Micromelia Short metacarpal Open mouth Abnormal form of the vertebral bodies Short toe Abnormality of the nail Accelerated skeletal maturation Hypoplasia of the radius Hypoplastic-absent sebaceous glands Melanocytic nevus Cone-shaped epiphysis Hypoplasia of the ulna Open bite Abnormality of immune system physiology Epiphyseal stippling Abnormality of the ulna Menstrual irregularities Abnormality of female external genitalia Peripheral neuropathy Aplasia/Hypoplastia of the eccrine sweat glands Absent eyebrow Anodontia Posterior embryotoxon Aplasia/Hypoplasia of the eyebrow Agenesis of permanent teeth Sparse body hair Hypoplastic nipples Rhinitis Absent eyelashes Soft skin Taurodontia Heat intolerance Periorbital hyperpigmentation Conical tooth Anterior hypopituitarism Concave nail Absent nipple Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Abnormal oral mucosa morphology Everted upper lip vermilion Periorbital wrinkles Hypoplasia of the iris Narrow face Aniridia Convex nasal ridge Micropenis Strabismus Hydrocephalus Syndactyly Headache Abnormality of the pinna Craniosynostosis Genu valgum Epidermal acanthosis Wolff-Parkinson-White syndrome Acanthosis nigricans Abnormal palate morphology 2-3 toe syndactyly Broad hallux Underdeveloped supraorbital ridges Split foot Turricephaly Preaxial foot polydactyly Thickened helices Short palm Abnormality of fibula morphology Seizures Short humerus Patellar dislocation Short 1st metacarpal Large forehead Bifid nasal tip Rhizomelic arm shortening Hypoplastic distal humeri Limited elbow flexion/extension Global developmental delay Broad thumb Blepharophimosis Muscular hypotonia Hypoplasia of penis Macrocephaly Ventriculomegaly Ambiguous genitalia Microtia Pectus carinatum Full cheeks Symphalangism affecting the phalanges of the hand Anterior plagiocephaly Anal stenosis Failure to thrive Aplasia/Hypoplasia involving the nose Ulnar deviation of the wrist Ulnar deviation of the hand or of fingers of the hand Lacrimal duct atresia Ulnar deviation of the hand Osteoporosis Mitral valve prolapse Growth delay Abnormality of cardiovascular system morphology Wide nose Hernia Abnormality of the wrist Abnormal cardiac septum morphology Ulnar deviation of finger Congenital sensorineural hearing impairment Dislocated radial head Congenital diaphragmatic hernia Cerebellar vermis hypoplasia Redundant skin Limited wrist movement Flat face Craniofacial dysostosis Knee dislocation Tombstone-shaped proximal phalanges Hallux varus Calcaneonavicular fusion Widened distal phalanges Cervical segmentation defect Horizontal sacrum Hitchhiker thumb Cervical kyphosis Flexion contracture Talipes equinovarus Flat acetabular roof Abnormal facial shape Radial bowing Tibial bowing Prominent occiput Sandal gap Camptodactyly of finger Interphalangeal joint contracture of finger Short neck Abnormality of the radius


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