Depressed nasal bridge, and Microdontia

Diseases related with Depressed nasal bridge and Microdontia

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


Top matches:

High match CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

High match ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B


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 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 (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

High match COFFIN-SIRIS SYNDROME 7; CSS7


Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

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Other less relevant matches:

High match AXENFELD-RIEGER SYNDROME


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

High match X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA


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 RAPP-HODGKIN SYNDROME; RHS


RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

High match ABLEPHARON MACROSTOMIA SYNDROME


Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

High match CRANIOECTODERMAL DYSPLASIA 2; CED2


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

High match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE


Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

High match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal heart morphology Common - Between 50% and 80% cases
Ectodermal dysplasia Common - Between 50% and 80% cases
Sparse hair Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Wide nasal bridge Prominent forehead Thin skin Hypoplasia of the maxilla Syndactyly Widely spaced teeth Generalized hypotonia Hypodontia Everted lower lip vermilion Intellectual disability Micrognathia Sparse eyelashes Delayed speech and language development Abnormal cardiac septum morphology Abnormality of the dentition Low-set ears Feeding difficulties Recurrent otitis media Hernia Patent ductus arteriosus Clinodactyly Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Thin upper lip vermilion Absent nipple Conical tooth Hypoplastic nipples Growth delay Underdeveloped nasal alae Cleft palate Absent eyebrow Sparse and thin eyebrow Hypohidrosis Sparse scalp hair Hypertension Frontal bossing Microcephaly Dry skin Hypotrichosis Delayed eruption of teeth

Rare Symptoms - Less than 30% cases


Patent foramen ovale Intellectual disability, severe Immunodeficiency Short nose Sparse eyebrow Blepharophimosis Redundant skin Abnormality of the outer ear Telecanthus Joint laxity Hypospadias Proteinuria Abnormality of cardiovascular system morphology Midface retrusion Malar flattening Short chin Short stature Absent eyelashes High forehead Cutaneous finger syndactyly Abnormal facial shape Hypothyroidism Abnormality of dental enamel Talipes equinovarus Fine hair Finger syndactyly Narrow mouth Cutis laxa Anteverted nares Abnormality of the pinna Ventricular septal defect Ptosis Microtia Toe syndactyly Myopia Cutaneous syndactyly Atrial septal defect Epicanthus Aplasia/Hypoplasia of the eyebrow Brachydactyly Posteriorly rotated ears Constipation Short distal phalanx of finger Abnormality of the skeletal system Thick vermilion border Depressed nasal ridge Hoarse voice Type I diabetes mellitus Periorbital hyperpigmentation Craniosynostosis Periorbital wrinkles Everted upper lip vermilion Anterior hypopituitarism Heat intolerance Anodontia Anhidrosis Soft skin Sparse body hair Agenesis of permanent teeth Wide mouth Hyperhidrosis Broad philtrum Motor delay Stage 5 chronic kidney disease Renal insufficiency Polydactyly Upslanted palpebral fissure Rod-cone dystrophy Perimembranous ventricular septal defect Hypothermia Inguinal hernia Pectus excavatum Mesomelia Nephronophthisis Cystic hygroma Polysplenia Splenomegaly Acidosis High anterior hairline Biliary cirrhosis Cholangitis Cloverleaf skull Short neck Bile duct proliferation Portal fibrosis Horizontal ribs Metopic synostosis Hepatomegaly Fused teeth Preaxial polydactyly Retrognathia Polyhydramnios Hydrops fetalis Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Full cheeks Limb undergrowth Postaxial hand polydactyly Narrow forehead Cholestasis Left ventricular hypertrophy Abnormality of dental color Smooth philtrum Rhizomelia Hepatic fibrosis Renal cyst Short ribs Narrow chest Cryptorchidism Dolichocephaly Hyperbilirubinemia Torsade de pointes Narrow palpebral fissure T-wave alternans Plagiocephaly Chronic kidney disease Atrioventricular dissociation Elevated hepatic transaminase Hypocalcemia Bulbous nose Intrauterine growth retardation Tetralogy of Fallot High palate Autism Gastroesophageal reflux Hypoglycemia Hypertrophic cardiomyopathy Autistic behavior Hip dislocation Carious teeth Joint hypermobility Coma Sudden cardiac death Syncope Round face Esotropia Cardiomegaly Mixed hearing impairment Prolonged QT interval Pulmonary arterial hypertension Abnormality of the face Hypoplasia of dental enamel Multiple joint contractures 2-3 toe syndactyly Sinusitis Bradycardia Ventricular fibrillation Obsessive-compulsive behavior Atrioventricular block Optic nerve hypoplasia Ventricular arrhythmia Ventricular tachycardia Arrhythmia Bronchitis Cardiomyopathy Hypoplasia of teeth Intellectual disability, mild Microphthalmia Postnatal growth retardation Dilated cardiomyopathy Talipes Cardiac arrest Delayed myelination Amblyopia Macular degeneration Torticollis Scrotal hypoplasia Heart murmur Prominent occiput Congenital hypothyroidism Patellar hypoplasia Encephalopathy Epicanthus inversus Amelogenesis imperfecta Abnormal palmar dermatoglyphics Neonatal asphyxia Multiple bladder diverticula Seizures Protruding tongue Muscular hypotonia Cognitive impairment Dysphagia Myopathy Behavioral abnormality Recurrent infections Depressivity Pneumonia Decreased number of sweat glands Long uvula Eczema 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 Retinal vein occlusion Fever Respiratory distress Recurrent respiratory infections Respiratory tract infection Dysphonia Hypoplasia of the iris Prominent supraorbital ridges Brittle hair Rhinitis Taurodontia Concave nail Abnormal oral mucosa morphology Aplasia/Hypoplastia of the eccrine sweat glands Hypoplastic-absent sebaceous glands Clinodactyly of the 5th finger Alopecia Conductive hearing impairment Cleft lip Protruding ear Cleft upper lip Ectopia pupillae Posterior embryotoxon Palmoplantar keratoderma Hypermetropia Scoliosis Nystagmus Prominent nasal bridge Broad thumb Fragile nails Premature loss of primary teeth Hyperkeratosis Oligodontia Palmoplantar hyperkeratosis Strabismus Downslanted palpebral fissures Coarse facial features Feeding difficulties in infancy Neurological speech impairment Thick eyebrow Aniridia Wide nose Otitis media Arnold-Chiari malformation Trigonocephaly Sagittal craniosynostosis Small pituitary gland Failure to thrive Sensorineural hearing impairment Glaucoma Proptosis Congenital diaphragmatic hernia Bilateral sensorineural hearing impairment Cerebellar vermis hypoplasia Anal stenosis Pulmonary hypoplasia Bifid uvula Ventral hernia Abnormality of finger Short metacarpal Dental malocclusion Ambiguous genitalia Hypoplasia of penis Interphalangeal joint contracture of finger Hypertrichosis Omphalocele Abnormality of the genital system Sacral dimple Atresia of the external auditory canal Ectropion Abnormality of the mouth Shallow orbits Hypoplasia of the zygomatic bone Corneal erosion Abnormality of skin pigmentation Abnormal hair pattern Labial hypoplasia High-frequency hearing impairment Aplasia/Hypoplasia of the nipples Breast hypoplasia Excessive wrinkled skin Overbite Abnormal nasal morphology Short upper lip Abnormality of female external genitalia Cryptophthalmos Ablepharon Microtia, third degree Absent hair Thin vermilion border Corneal opacity Small nail Dry hair Renal dysplasia Coarse hair Abnormality of the voice Supernumerary nipple Non-midline cleft lip Ectrodactyly Submucous cleft hard palate Generalized hyperpigmentation Narrow nose Hypoplastic labia majora Dystrophic toenail Pili torti Dystrophic fingernails Thick nail Cystic renal dysplasia Camptodactyly of finger Ankyloblepharon Hyperconvex nail Velopharyngeal insufficiency Trichodysplasia Hyperconvex fingernails Absent lacrimal punctum Pili canaliculi Submucous cleft soft palate Small, conical teeth Progressive alopecia Flexion contracture Visual impairment Umbilical hernia Camptodactyly Abnormal direction of ventricular apex



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