Downslanted palpebral fissures, and Choanal atresia
Diseases related with Downslanted palpebral fissures and Choanal atresia
In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Choanal atresia that can help you solving undiagnosed cases.
Top matches:
Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).
Related symptoms:
- Hearing impairment
- Micrognathia
- Cleft palate
- Downslanted palpebral fissures
- Malar flattening
SOURCES:
OMIM
MENDELIAN
More info about TREACHER COLLINS SYNDROME 2; TCS2
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015).
Related symptoms:
- Short stature
- Hearing impairment
- Microcephaly
- Micrognathia
- Cleft palate
SOURCES:
OMIM
MENDELIAN
More info about ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN
Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
Related symptoms:
- Hypertelorism
- Strabismus
- Cleft palate
- Downslanted palpebral fissures
- Frontal bossing
SOURCES:
ORPHANET
MENDELIAN
More info about ANTLEY-BIXLER SYNDROME
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Other less relevant matches:
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.
CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28
Related symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
- Scoliosis
- Nystagmus
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME
Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.
TREACHER COLLINS SYNDROME 1; TCS1 Is also known as mfd1|tcs|treacher collins syndrome|tcof|mandibulofacial dysostosis|treacher collins-franceschetti syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Microcephaly
- Hypertelorism
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about TREACHER COLLINS SYNDROME 1; TCS1
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).
CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome
Related symptoms:
- Short stature
- Hypertelorism
- Failure to thrive
- Strabismus
- Cleft palate
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME
Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.
PFEIFFER SYNDROME Is also known as acrocephalosyndactyly, type v|noack syndrome|acs5|acs v
Related symptoms:
- Intellectual disability
- Hearing impairment
- Scoliosis
- Hypertelorism
- Micrognathia
SOURCES:
MESH
OMIM
MENDELIAN
More info about PFEIFFER SYNDROME
Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.
OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism
Related symptoms:
- Intellectual disability
- Scoliosis
- Hypertelorism
- Failure to thrive
- Micrognathia
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about OSTEOGLOSPHONIC DYSPLASIA
Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.
APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1
Related symptoms:
- Intellectual disability
- Hypertelorism
- Strabismus
- Sensorineural hearing impairment
- Cleft palate
SOURCES:
ORPHANET
MENDELIAN
More info about APERT SYNDROME
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.
CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome
Related symptoms:
- Global developmental delay
- Hypertelorism
- Strabismus
- Cleft palate
- Cryptorchidism
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME
Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Choanal atresia
Symptoms // Phenotype |
% cases |
Cleft palate |
Common - Between 50% and 80% cases
|
Hypertelorism |
Common - Between 50% and 80% cases
|
Midface retrusion |
Common - Between 50% and 80% cases
|
Malar flattening |
Common - Between 50% and 80% cases
|
Conductive hearing impairment |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Downslanted palpebral fissures and Choanal atresia. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Strabismus
Uncommon Symptoms - Between 30% and 50% cases
Hearing impairment
Micrognathia
Cloverleaf skull
Craniosynostosis
Proptosis
Intellectual disability
Choanal stenosis
Arnold-Chiari malformation
Visual impairment
Depressed nasal bridge
Frontal bossing
Hypoplasia of the maxilla
Hydrocephalus
Low-set ears
Optic atrophy
Atresia of the external auditory canal
Craniofacial dysostosis
Respiratory distress
Respiratory insufficiency
Ptosis
Turricephaly
Cryptorchidism
Brachyturricephaly
Mandibular prognathia
High forehead
Scoliosis
Agenesis of corpus callosum
High palate
Narrow mouth
Microtia
Abnormality of cardiovascular system morphology
Reduced number of teeth
Short stature
Brachydactyly
Convex nasal ridge
Epidermal acanthosis
Coloboma
Acanthosis nigricans
Short nose
Anteverted nares
Rare Symptoms - Less than 30% cases
Melanocytic nevus
Broad phalanx
Failure to thrive
Short metacarpal
Dental malocclusion
Hypertension
Ventriculomegaly
Prominent nasal bridge
Feeding difficulties
Iris coloboma
Abnormal form of the vertebral bodies
Bicoronal synostosis
Protruding ear
Global developmental delay
Abnormality of the dentition
Narrow palate
Short neck
Microcephaly
Natal tooth
Long philtrum
Oxycephaly
Low-set, posteriorly rotated ears
Femoral bowing
Facial asymmetry
Retrognathia
Sensorineural hearing impairment
Broad thumb
Anotia
Shallow orbits
Toe syndactyly
Finger syndactyly
Underdeveloped supraorbital ridges
Mandibulofacial dysostosis
Hypoplasia of the zygomatic bone
Broad forehead
Macrotia
Elbow ankylosis
Patent ductus arteriosus
Brachycephaly
Hypospadias
Bowing of the long bones
Delayed speech and language development
Cartilaginous trachea
Broad foot
Hypoplastic scapulae
Spondyloepimetaphyseal dysplasia
Nasal obstruction
Chordee
Abnormality of the clavicle
Failure to thrive in infancy
Depressivity
Platyspondyly
Limb undergrowth
Rhizomelia
Plagiocephaly
Disproportionate short-limb short stature
Short foot
Short palm
Severe short stature
Broad palm
Delayed skeletal maturation
Short metatarsal
Increased susceptibility to fractures
Short middle phalanx of toe
Inguinal hernia
Hypoplastic toenails
Hypophosphatemia
Short phalanx of finger
Acrobrachycephaly
Renal phosphate wasting
Abnormality of the skull
Abnormality of the face
Subcutaneous nodule
Gingival overgrowth
Abnormality of the nail
Abnormality of vision
Redundant skin
Bifid scrotum
Limited elbow extension
Anteriorly placed anus
Hearing abnormality
Skin tags
Overgrowth
Breech presentation
Abnormality of the pancreas
Aplasia/Hypoplasia of the earlobes
Redundant neck skin
Thickened helices
Visceral angiomatosis
Palmoplantar cutis laxa
Prominent umbilicus
Prominent scrotal raphe
Palmoplantar cutis gyrata
Small nail
Palmoplantar keratoderma
Abnormality of the nasopharynx
Bifid uvula
Abnormal bone ossification
Broad metatarsal
Broad metacarpals
Pseudoarthrosis
Unerupted tooth
Multiple unerupted teeth
Feeding difficulties in infancy
Micromelia
Flat face
Delayed eruption of teeth
Large fontanelles
Dolichocephaly
Vertebral segmentation defect
Absent septum pellucidum
Ovarian neoplasm
Aplasia/Hypoplasia of the thumb
Esophageal atresia
Corneal erosion
Ectopic anus
Morphological abnormality of the semicircular canal
Cervical C5/C6 vertebrae fusion
Umbilical hernia
Abnormality of the eye
Shortening of all middle phalanges of the fingers
Abnormal palate morphology
Long hallux
Abnormal heart morphology
Pectus excavatum
Abnormality of the pinna
Cupped ear
Broad neck
Optic nerve coloboma
Cataract
Microphthalmia
Visual loss
Apnea
Macrocephaly
Wide mouth
Encephalocele
Preauricular skin tag
Sparse eyelashes
Abnormality of the outer ear
Sleep apnea
Agenesis of permanent teeth
Glossoptosis
Ventricular septal defect
Nystagmus
Abnormality of the nose
Pretragal ectopia
Bilateral conductive hearing impairment
Thick vermilion border
Decreased body weight
Flared metaphysis
Acetabular dysplasia
Broad finger
Bilateral choanal atresia
Decreased head circumference
Joint stiffness
Narrow pelvis bone
Camptodactyly of finger
Narrow chest
Talipes
Arachnodactyly
Recurrent fractures
Abnormality of the ribs
Delayed cranial suture closure
Abnormal renal morphology
Obstructive sleep apnea
Cleft soft palate
Bronchomalacia
Otitis media
Inflammatory abnormality of the eye
Abnormal sacrum morphology
Membranous nephropathy
Short uvula
Syndactyly
Dilatation
Polydactyly
Wide nose
Dental crowding
Aplasia/Hypoplasia of the cerebellum
Short thumb
Preaxial polydactyly
Broad hallux
Ankylosis
Coronal craniosynostosis
Tracheal stenosis
Anterior plagiocephaly
Humeroradial synostosis
Proportionate short stature
Glomerulonephritis
Bilateral microphthalmos
Hypoplasia of the pharynx
Lacrimal duct stenosis
Accessory spleen
Upper eyelid coloboma
Lower eyelid coloboma
Sparse lower eyelashes
Ectopic adrenal gland
Widely spaced primary teeth
Projection of scalp hair onto lateral cheek
Abnormal parotid gland morphology
Laryngomalacia
Renal insufficiency
Posteriorly rotated ears
Dry skin
Hypopigmentation of the skin
Nevus
Migraine
Abnormality of the metacarpal bones
Increased intracranial pressure
Preauricular skin furrow
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