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:
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
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:
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
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
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
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
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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Pain and Smooth philtrum, related diseases and genetic alterations
Obesity and Hypoplasia of the maxilla, related diseases and genetic alterations
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