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:

High match TREACHER COLLINS SYNDROME 2; TCS2


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

High match ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN


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

High match ANTLEY-BIXLER SYNDROME


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:

High match CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME


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

High match TREACHER COLLINS SYNDROME 1; TCS1


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

High match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


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

High match PFEIFFER 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

High match OSTEOGLOSPHONIC DYSPLASIA


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

High match APERT SYNDROME


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

High match CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS 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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