Downslanted palpebral fissures, and Dental crowding

Diseases related with Downslanted palpebral fissures and Dental crowding

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Dental crowding that can help you solving undiagnosed cases.


Top matches:

High match INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME


INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

High match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

High match BAINBRIDGE-ROPERS SYNDROME; BRPS


Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

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Other less relevant matches:

High match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

High match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

High match SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

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

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

High match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

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

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Dental crowding

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Clinodactyly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Thin upper lip vermilion

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Long philtrum Intellectual disability High palate Short nose Pes planus Abnormality of the skeletal system Hypertelorism Frontal bossing Seizures Delayed speech and language development Synophrys Narrow mouth Hearing impairment Short stature Midface retrusion Myopia Cleft palate Sensorineural hearing impairment Strabismus Conductive hearing impairment Broad forehead Brachydactyly Anteverted nares Feeding difficulties Posteriorly rotated ears Facial asymmetry Dental malocclusion Epicanthus Brachycephaly Motor delay Ptosis High forehead Wide nasal bridge

Rare Symptoms - Less than 30% cases


Obstructive sleep apnea Upslanted palpebral fissure Apnea Wide mouth Bulbous nose Everted lower lip vermilion Open mouth Disproportionate tall stature Abnormality of the dentition Low-set, posteriorly rotated ears Delayed skeletal maturation Pectus excavatum Behavioral abnormality Short phalanx of finger Clinodactyly of the 5th finger Overgrowth Thin vermilion border Delayed eruption of teeth Bifid uvula Depressed nasal bridge Short distal phalanx of finger Macrocephaly Mild global developmental delay Cataract Failure to thrive Patent foramen ovale Absent speech Attention deficit hyperactivity disorder Pointed chin Narrow palate Talipes equinovarus Telecanthus Camptodactyly Protruding ear Talipes Arachnodactyly Joint hypermobility Mitral regurgitation Hernia Scoliosis Microcephaly Hypoplasia of teeth Hyperactivity Mild myopia Ureteral stenosis Expressive language delay Hyperreflexia Dysphagia Thoracic kyphoscoliosis Fifth finger distal phalanx clinodactyly Kyphosis Recurrent infections Gait ataxia Postauricular skin tag Macrotia Aggressive behavior Abnormal cardiac septum morphology Poor speech Thick eyebrow Thick vermilion border Tapered finger Hypodontia Vertebral clefting Syncope Low anterior hairline Hypoplastic helices Abnormality of the crus of the helix Abnormality of the hand Overfolding of the superior helices External ear malformation Glossoptosis Laryngotracheomalacia Ankylosis Microglossia Stenosis of the external auditory canal Impaired mastication Hamartoma of tongue Snoring Difficulty in tongue movements Speech articulation difficulties Anterior open-bite malocclusion Cleft helix Hypoplastic superior helix Question mark ear 4-5 finger syndactyly Mandibular condyle hypoplasia Abnormality of the temporomandibular joint Hypoplasia of first ribs Mandibular condyle aplasia Periauricular skin pits Aplasia/Hypoplasia of the external ear Vein of Galen aneurysmal malformation Cleft at the superior portion of the pinna Hyperplasia of the maxilla Optic atrophy Cutaneous syndactyly of toes Lumbar hyperlordosis Kyphoscoliosis Fine hair Cranial hyperostosis Exotropia Sparse scalp hair Stereotypy Large fontanelles Abnormality of dental enamel Clumsiness Sparse eyelashes Cupped ear Retrognathia Short palpebral fissure Renal agenesis Pectus carinatum Hyperlordosis Abnormality of dental morphology Hyperostosis Long nose Anxiety Basal ganglia calcification Narrow nose Spinal cord compression Large earlobe Broad long bones Optic nerve hypoplasia Long hallux Constipation Obsessive-compulsive behavior 2-3 toe syndactyly Absent radius Small face Ventricular extrasystoles Abnormality of finger 2-4 toe cutaneous syndactyly Maternal diabetes Long fingers Overlapping toe Macrodontia of permanent maxillary central incisor Obsessive-compulsive trait Persistent pupillary membrane Hyperacusis Aplasia of the 1st metacarpal Syndactyly Microphthalmia Deeply set eye Toe syndactyly Small hand Short foot Microcornea Hypoplasia of the maxilla Triangular face Underdeveloped nasal alae Facial cleft Narrow nasal tip Atresia of the external auditory canal Severe postnatal growth retardation Postnatal growth retardation Prominent nasal bridge Severe global developmental delay Inability to walk Highly arched eyebrow Broad nasal tip Tall stature Short chin Trigonocephaly Hypoplasia of the brainstem Delayed ability to walk Ulnar deviation of the hand Hypoplasia of the corpus callosum Anemia Short neck Malar flattening Patent ductus arteriosus Hydronephrosis Flat face Esotropia Renal dysplasia Finger clinodactyly Nephrocalcinosis Hypercalciuria Mixed hearing impairment Prominent forehead Growth delay Large forehead Arthralgia Intellectual disability, mild Autism EEG abnormality Dolichocephaly Long face Cafe-au-lait spot Muscle weakness Pain Myopathy Cerebral atrophy Inguinal hernia Myalgia Hypoplasia of the musculature Scarring Bruising susceptibility Generalized muscle weakness Mitral valve prolapse Blue sclerae Joint dislocation Delayed gross motor development Adducted thumb Hyperextensible skin Bilateral talipes equinovarus Fragile skin Facial hypotonia Severe sensorineural hearing impairment Elliptocytosis Abnormality of the outer ear Supraventricular tachycardia Tachycardia Narrow forehead Palpitations Short toe Spina bifida occulta Sandal gap Infantile muscular hypotonia Sleep apnea Transposition of the great arteries Proportionate short stature Pierre-Robin sequence 11 pairs of ribs Osteopenia Wolff-Parkinson-White syndrome Spondylolisthesis Short 5th metacarpal Perimembranous ventricular septal defect Anterior open bite Prominent sternum Paroxysmal supraventricular tachycardia Respiratory distress Abnormality of the pinna Full cheeks Round face Preauricular skin tag Pulmonic stenosis Abnormal heart morphology Broad distal phalanx of finger Broad thumb Mild conductive hearing impairment Cleft hard palate Cryptorchidism Severe short stature Micropenis Proptosis Skeletal dysplasia Umbilical hernia Cleft lip Otitis media Limb undergrowth Gingival overgrowth Arrhythmia Increased bone mineral density Oligodontia Chronic otitis media Mesomelia Thickened calvaria Depressed nasal tip Generalized osteosclerosis Narrow naris Triangular mouth Mesomelic short stature Otitis media with effusion Ventricular septal defect Severe expressive language delay



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