Downslanted palpebral fissures, and Deeply set eye

Diseases related with Downslanted palpebral fissures and Deeply set eye

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


Top matches:

High match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY


Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38


MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

High match INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match FREEMAN-SHELDON SYNDROME


Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about FREEMAN-SHELDON SYNDROME

High match JOUBERT SYNDROME 10; JBTS10


Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

High match SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME


Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.

SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME Is also known as sams syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME

High match KLEEFSTRA SYNDROME 2; KLEFS2


Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

High match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

High match NEONATAL MARFAN SYNDROME


Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

High match DUPLICATION/INVERSION 15Q11


The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Deeply set eye

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Deeply set eye. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Wide nasal bridge Hypertelorism Strabismus Feeding difficulties High palate Epicanthus Short stature Growth delay Cryptorchidism Aggressive behavior Frontal bossing Talipes equinovarus Hyperactivity Low-set ears Short philtrum Microcephaly Motor delay Brachycephaly Narrow mouth

Rare Symptoms - Less than 30% cases


Hernia Broad forehead Long fingers Hearing impairment Joint hypermobility Scoliosis Poor speech Cerebellar vermis hypoplasia Long toe Ptosis Micrognathia Flexion contracture Feeding difficulties in infancy Broad nasal tip Hip dislocation Intellectual disability, severe Synophrys Neonatal hypotonia Hypotelorism Everted lower lip vermilion Tented upper lip vermilion Depressed nasal bridge Macrocephaly Ataxia Hydrocephalus Small for gestational age Pectus carinatum Dolichocephaly Hyporeflexia Arachnodactyly Developmental regression Muscular hypotonia Inappropriate laughter Coarse facial features Thick eyebrow Highly arched eyebrow Dandy-Walker malformation Decreased testicular size Tics Wide mouth Astigmatism Blepharophimosis Fine hair Narrow palpebral fissure Sparse hair Language impairment Long palpebral fissure Fair hair Thin upper lip vermilion Self-mutilation Pain Duplication of thumb phalanx Mild microcephaly Hypermetropia High, narrow palate Ascending tubular aorta aneurysm Mitral valve prolapse Drooling Ventricular septal defect Clinodactyly of the 5th finger Hypogonadism Low-set, posteriorly rotated ears Autistic behavior Tetralogy of Fallot Stereotypy Precocious puberty Increased arm span Unilateral renal agenesis 2-3 toe syndactyly Neurodevelopmental delay Gonadal dysgenesis Echolalia Abnormality of brain morphology Severe expressive language delay Self-biting Brachydactyly Crumpled ear High myopia Emphysema Blue sclerae Mitral regurgitation Cutis laxa Adducted thumb Ectopia lentis Heart murmur Neonatal respiratory distress Tricuspid regurgitation Lipoatrophy Talipes calcaneovarus Aortic root aneurysm Megalocornea Hypoxemia Abnormal echocardiogram Enlarged thorax Tricuspid valve prolapse Iridodonesis Abnormal cardiac ventricle morphology Autism Microphthalmia Upslanted palpebral fissure Joint stiffness Facial hypotonia Congenital muscular torticollis Increased head circumference Failure to thrive Abnormality of the dentition Long philtrum Polyhydramnios Camptodactyly of finger Torticollis Neurological speech impairment Underdeveloped nasal alae Oligohydramnios Depressed nasal ridge Nasal speech Ulnar deviation of finger Malignant hyperthermia Pyloric stenosis Congenital hip dislocation Prenatal movement abnormality Generalized tonic-clonic seizures Gait ataxia Macrotia Long face Thick lower lip vermilion Prominent supraorbital ridges Large hands Cerebral atrophy Downturned corners of mouth Chronic diarrhea Myopia Ventriculomegaly Diarrhea Hypoglycemia Overgrowth Narrow forehead Open mouth Dimple chin Absent palmar crease Midface retrusion Scaphocephaly Rhizomelia Abnormality of the genitourinary system Atresia of the external auditory canal Proximal placement of thumb Preauricular pit Dislocated radial head Short humerus Hypoplastic scapulae Conductive hearing impairment Hypoplastic ilia Delayed ossification of pubic rami Scapulohumeral synostosis Delayed speech and language development Behavioral abnormality Kyphosis Short nose Talipes Prominent forehead Recurrent infections Intellectual disability, profound Rod-cone dystrophy Polydactyly EEG abnormality Polymicrogyria Hirsutism Postaxial polydactyly Thick vermilion border Encephalocele Malar flattening Deep philtrum Molar tooth sign on MRI Enlarged cisterna magna Infra-orbital crease Abnormality of the skeletal system Anteverted nares Respiratory insufficiency Severe receptive language delay



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Arrhythmia, related diseases and genetic alterations Flexion contracture and Joint stiffness, related diseases and genetic alterations Failure to thrive and Combined immunodeficiency, related diseases and genetic alterations Nystagmus and Dehydration, related diseases and genetic alterations Muscular hypotonia and Blepharophimosis, related diseases and genetic alterations Hearing impairment and Hypoplasia of the corpus callosum, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more