Hypertelorism, and Ptosis

Diseases related with Hypertelorism and Ptosis

In the following list you will find some of the most common rare diseases related to Hypertelorism and Ptosis that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.

JACKSON-WEISS SYNDROME Is also known as craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|jws

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Ptosis
  • Frontal bossing
  • Midface retrusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACKSON-WEISS SYNDROME

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 9; NS9

Other less relevant matches:

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND 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

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 10; NS10

Top 5 symptoms//phenotypes associated to Hypertelorism and Ptosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Ptosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short neck Low-set ears Pulmonic stenosis Webbed neck

Rare Symptoms - Less than 30% cases

Depressed nasal bridge Sparse and thin eyebrow Cryptorchidism Macrocephaly Abnormal cardiac septum morphology Sensorineural hearing impairment Curly hair Clinodactyly Brachycephaly High forehead Turricephaly Abnormality of the sternum Intrauterine growth retardation Seizures Micrognathia Coarctation of aorta Wide mouth Hypoplasia of the maxilla Strabismus Mandibular prognathia Generalized hypotonia Hearing impairment Intellectual disability, mild Autism Frontal bossing Abnormality of coagulation Pointed chin Narrow palate Flexion contracture Wide nasal bridge Short nose Malar flattening Narrow mouth Thick vermilion border Mitral stenosis Hypertrophic cardiomyopathy Blepharophimosis Prominent forehead Arrhythmia Atrial septal defect Epicanthus Aplasia/Hypoplasia of the frontal sinuses Prominent palatine ridges Premature posterior fontanelle closure Absent/hypoplastic paranasal sinuses Abnormality of the skull base Metopic synostosis Telecanthus Absent speech Camptodactyly of finger Long face Thin upper lip vermilion High palate Limited wrist movement Aplasia/Hypoplasia involving the nose Ulnar deviation of the wrist Ulnar deviation of the hand or of fingers of the hand Lacrimal duct atresia EEG abnormality Attention deficit hyperactivity disorder Dolichocephaly Ulnar deviation of the hand Synophrys Abnormality of the thyroid gland Flat face Abnormality of the wrist Ulnar deviation of finger Congenital sensorineural hearing impairment Narrow face Depressed nasal ridge Dental crowding Interphalangeal joint contracture of finger Bilateral sensorineural hearing impairment High, narrow palate Wide nose Cafe-au-lait spot Motor delay Epicanthus inversus Long philtrum Wide anterior fontanel 2-3 toe syndactyly Hyperkeratosis pilaris Mild short stature Sparse eyebrow Hyperkeratosis Broad metatarsal Abnormality of fibula morphology Symphalangism affecting the phalanges of the hand Broad hallux phalanx Preaxial foot polydactyly Split foot Underdeveloped supraorbital ridges Short metatarsal Scoliosis Abnormal palate morphology Convex nasal ridge Toe syndactyly Proptosis Midface retrusion Mood swings Esophagitis Autistic behavior Aggressive behavior Behavioral abnormality Delayed speech and language development Microcephaly Muscular hypotonia Broad nasal tip Syndactyly Small for gestational age Abnormality of the kidney Posteriorly rotated ears Megakaryocyte dysplasia Prolonged bleeding time Radial deviation of finger Trigonocephaly Pyloric stenosis Abnormality of the cardiovascular system Finger syndactyly Thrombocytopenia Hepatomegaly Ventriculomegaly Growth delay Anterior plagiocephaly Delayed cranial suture closure Plagiocephaly Spina bifida occulta Spina bifida Low anterior hairline Dandy-Walker malformation Craniosynostosis Agenesis of corpus callosum Cerebellar atrophy Schwannoma


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