Hypertelorism, and Pectus excavatum

Diseases related with Hypertelorism and Pectus excavatum

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

Top matches:

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Other less relevant matches:

Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008).

MENTAL RETARDATION, X-LINKED 21; MRX21 Is also known as mental retardation, x-linked 34|mrx34

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 21; MRX21

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Top 5 symptoms//phenotypes associated to Hypertelorism and Pectus excavatum

Symptoms // Phenotype % cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Posteriorly rotated ears Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Low-set ears Short neck Polyhydramnios Seizures Intellectual disability Global developmental delay Generalized hypotonia Frontal bossing Midface retrusion Ptosis Cryptorchidism Anteverted nares Atrial septal defect Depressed nasal bridge Wide intermamillary distance Motor delay Pulmonic stenosis Scoliosis Obesity Webbed neck

Rare Symptoms - Less than 30% cases

Malar flattening Clinodactyly Agenesis of corpus callosum Ventriculomegaly Finger syndactyly Depressivity Pectus excavatum of inferior sternum Delayed speech and language development Thick vermilion border Tapered finger Upslanted palpebral fissure Kyphosis Microcephaly Muscular hypotonia Hypoplasia of the corpus callosum Joint hypermobility Open mouth Tented upper lip vermilion Everted lower lip vermilion Pectus carinatum Cubitus valgus Strabismus Hydrocephalus High palate Proptosis Osteopenia Retrognathia Hypertrophic cardiomyopathy Craniosynostosis Short nose Ventricular septal defect Leukemia Low-set, posteriorly rotated ears Short palm Broad neck Autism Broad forehead Juvenile myelomonocytic leukemia Autistic behavior Sparse and thin eyebrow Thick lower lip vermilion Intellectual disability, moderate Coarse facial features Bilateral cryptorchidism Macrotia Mandibular prognathia Curly hair Synophrys Blue irides Hyperactivity Dysplastic pulmonary valve Hypoplastic nasal bridge Sparse eyebrow Intellectual disability, mild Abnormality of coagulation Atrial septal dilatation Prolonged bleeding time High anterior hairline Dental malocclusion Cleft palate Abnormality of skin pigmentation Relative macrocephaly Scrotal hypoplasia Overfolded helix Ureterocele Muscle weakness Telecanthus Specific learning disability Low posterior hairline Cafe-au-lait spot Neurofibromas Microdontia Freckling Multiple cafe-au-lait spots Acute lymphoblastic leukemia Secundum atrial septal defect Lisch nodules Axillary freckling Superior pectus carinatum Prominent nasolabial fold Optic nerve glioma Short palpebral fissure Microcornea Broad nasal tip Micrognathia Dental crowding Prominent supraorbital ridges Impulsivity Broad palm Macroorchidism Uplifted earlobe Maxillary lateral incisor microdontia Hearing impairment Sagittal craniosynostosis Flat face Wide nasal bridge Microphthalmia Hypospadias Narrow mouth Pes planus Abnormality of the pinna Blepharophimosis Microtia Carious teeth Myeloproliferative disorder Interstitial pulmonary abnormality Scaphocephaly Osteoarthritis Lambdoidal craniosynostosis Narrow iliac wings Fractures of the long bones Inguinal hernia Hip dislocation Genu valgum Brain atrophy Abnormality of epiphysis morphology Coronal craniosynostosis Lymphedema Joint dislocation Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Enlarged joints Visual impairment Decreased skull ossification Turricephaly Facial asymmetry Postnatal growth retardation Abnormality of cardiovascular system morphology Wide nose Psychosis Oligodontia Large hands Bipolar affective disorder Anodontia Platyspondyly Thin ribs Recurrent fractures Triangular face Oligohydramnios Blue sclerae Wormian bones Microretrognathia Reduced bone mineral density High pitched voice Absent speech Poor speech Cystic hygroma Parietal bossing Short middle phalanx of finger Hallux valgus Exertional dyspnea Abnormality of digit Tracheomalacia Short columella Bronchomalacia Bronchospasm Tachypnea Intercostal retractions Cognitive impairment Patent ductus arteriosus Dolichocephaly Mitral valve prolapse Deep philtrum Pterygium Abnormality of the hand Broad thumb Inability to walk Abnormality of the orbital region Delayed myelination Plagiocephaly Delayed gross motor development Broad hallux Prominent metopic ridge Facial hypotonia Abnormal hair whorl Deviation of the 5th finger Highly arched eyebrow Brachydactyly Respiratory distress Long philtrum Syndactyly Recurrent respiratory infections Dyspnea Respiratory tract infection Abnormality of the foot Inguinal freckling


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