Downslanted palpebral fissures, and Facial asymmetry

Diseases related with Downslanted palpebral fissures and Facial asymmetry

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Facial asymmetry 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 AURICULOCONDYLAR SYNDROME


Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

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Other less relevant matches:

High match GABRIELE-DE VRIES SYNDROME


Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

High match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

High match SHELDON-HALL SYNDROME


Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

High match HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2


Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

High match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

High match LAMB-SHAFFER SYNDROME; LAMSHF


Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LAMB-SHAFFER SYNDROME; LAMSHF

High match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Facial asymmetry

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Posteriorly rotated ears Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

Patients with Downslanted palpebral fissures and Facial asymmetry. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Generalized hypotonia Seizures Epicanthus Feeding difficulties Strabismus Abnormal facial shape Malar flattening Thin upper lip vermilion Abnormality of the skeletal system Narrow mouth Mandibular prognathia High forehead Wide nasal bridge Behavioral abnormality Sensorineural hearing impairment Dental crowding Absent speech Long philtrum Coloboma Hypoplasia of the corpus callosum Motor delay Ventriculomegaly Optic atrophy Delayed speech and language development Hypertelorism High palate Low-set ears

Rare Symptoms - Less than 30% cases


Pes planus Cataract Anxiety Short stature Long fingers Pointed chin Broad forehead Abnormality of the dentition Tremor Cognitive impairment Depressed nasal bridge Abnormal cardiac septum morphology Clinodactyly Craniofacial asymmetry Gait ataxia Cerebellar hypoplasia Frontal bossing Cleft lip Synophrys Scoliosis Tapered finger Brachydactyly Congenital cataract Camptodactyly Low anterior hairline Upslanted palpebral fissure Cerebral atrophy Short nose Bulbous nose Intellectual disability, mild Kyphoscoliosis Visual impairment Hydrocephalus Open mouth Anteverted nares Tented upper lip vermilion Joint hypermobility Microtia Macrocephaly Cleft palate Poor speech Abnormality of the pinna Protruding ear Pectus excavatum Atresia of the external auditory canal Delayed myelination Muscular hypotonia Microcephaly Involuntary movements Abnormality of movement Iris coloboma Unsteady gait Pulmonary hypoplasia High, narrow palate Choanal stenosis Hypopigmentation of the skin Hepatic failure Abnormal cerebellum morphology Apraxia Limb ataxia Bilateral conductive hearing impairment Choanal atresia Polyhydramnios Poor head control Slurred speech Bilateral ptosis Postural tremor Hernia Mask-like facies Atrial septal defect Brisk reflexes Pulmonic stenosis Microdontia Congenital diaphragmatic hernia Severe hydrocephalus Cholestasis Heterotopia Wide anterior fontanel Microretrognathia Lissencephaly Relative macrocephaly Cortical gyral simplification Communicating hydrocephalus Abnormal cortical gyration Colpocephaly Macular hypoplasia Periventricular gray matter heterotopia Corneal opacity Ataxia Nystagmus Dysarthria Cerebellar atrophy Cerebral cortical atrophy Aniridia Reduced visual acuity Neonatal hypotonia Dandy-Walker malformation Intestinal malrotation Muscular hypotonia of the trunk Neurological speech impairment Obstructive sleep apnea Hypoplasia of the iris Thick eyebrow Mild myopia Hypoplastic helices Laryngotracheomalacia Severe expressive language delay Hyperreflexia Dysphagia Kyphosis Recurrent infections Hyperactivity Macrotia Aggressive behavior Attention deficit hyperactivity disorder Short distal phalanx of finger Expressive language delay Thick vermilion border Hypodontia Syncope Short phalanx of finger Abnormality of the hand Obsessive-compulsive behavior 2-3 toe syndactyly Absent radius Ventricular extrasystoles Abnormality of finger Mild global developmental delay Obsessive-compulsive trait Hyperacusis Ureteral stenosis Thoracic kyphoscoliosis Hearing abnormality Pectus carinatum Speech apraxia Titubation Abnormality of the pulmonary artery Broad distal phalanx of finger Scanning speech Truncal titubation Frontal cortical atrophy Myopia Conductive hearing impairment Constipation Retrognathia Hyperlordosis Renal agenesis Vertebral clefting Lumbar hyperlordosis Mitral regurgitation Clumsiness Stereotypy Exotropia Narrow palate Optic nerve hypoplasia Overlapping toe Disproportionate tall stature Maternal diabetes Small face Long hallux Hyperplasia of the maxilla Hypoplasia of the fovea Ulnar deviation of the hand or of fingers of the hand Absent phalangeal crease Thick lower lip vermilion Preauricular skin tag Dental malocclusion Round face Dystonia Hypothyroidism Bifid uvula Joint laxity Craniosynostosis Full cheeks Abnormality of the cerebral white matter Gliosis Waddling gait Sparse eyebrow Intrauterine growth retardation Esophageal atresia Periorbital fullness Lacrimal duct stenosis Mild intrauterine growth retardation Apnea Low-set, posteriorly rotated ears Respiratory distress Deviation of the 5th finger Abnormality of the orbital region Abnormal hair whorl Facial hypotonia Prominent metopic ridge Abnormality of the outer ear Cupped ear Midface retrusion Hypoplasia of first ribs Stenosis of the external auditory canal Impaired mastication Hamartoma of tongue Snoring Difficulty in tongue movements Speech articulation difficulties Overfolding of the superior helices Anterior open-bite malocclusion Hypoplastic superior helix Question mark ear Mandibular condyle hypoplasia Abnormality of the temporomandibular joint Mandibular condyle aplasia Facial cleft Periauricular skin pits Aplasia/Hypoplasia of the external ear Vein of Galen aneurysmal malformation Cleft at the superior portion of the pinna Cleft helix Abnormality of the crus of the helix Postauricular skin tag Growth delay Ankylosis Glossoptosis Cryptorchidism External ear malformation Broad hallux Brachycephaly Round ear Mildly elevated creatine phosphokinase Triangular face Webbed neck Narrow face Bilateral single transverse palmar creases Congenital hip dislocation Short chin Narrow palpebral fissure Adducted thumb Congenital contracture Rocker bottom foot Metatarsus adductus Multiple joint contractures Vertebral segmentation defect Abnormality of the foot Abnormality of the ear Tarsal synostosis Abnormality of the hip bone Ulnar deviation of finger Aplasia/Hypoplasia of the radius Distal arthrogryposis Trismus Overlapping fingers Calcaneovalgus deformity Microglossia Ulnar deviation of the wrist Prominent nasolabial fold Talipes Arthrogryposis multiplex congenita Delayed gross motor development Shallow orbits Plagiocephaly Nail dystrophy Inability to walk Smooth philtrum Thin vermilion border Flat face Sparse scalp hair Radioulnar synostosis Mild short stature Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Broad philtrum Hip dislocation Broad eyebrow Agenesis of corpus callosum Muscle weakness Flexion contracture Talipes equinovarus Short neck Myopathy Elevated serum creatine phosphokinase Severe short stature Facial palsy Joint stiffness Camptodactyly of finger Prominent nasal bridge Aplasia of the 1st metacarpal



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