Hypertelorism, and Postaxial polydactyly

Diseases related with Hypertelorism and Postaxial polydactyly

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

Top matches:

OROFACIODIGITAL SYNDROME XV; OFD15 Is also known as oral-facial-digital syndrome, type xv|ofds xv

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Wide nasal bridge
  • Ventriculomegaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XV; OFD15

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

Other less relevant matches:

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME Is also known as ostravik-lindemann-solberg syndrome

Related symptoms:

  • Hypertelorism
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Syndactyly
  • Patent ductus arteriosus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Postaxial polydactyly

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Postaxial hand polydactyly Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Molar tooth sign on MRI Broad hallux Ventricular septal defect Abnormal heart morphology Abnormality of cardiovascular system morphology Ventriculomegaly Hydrocephalus Cryptorchidism

Rare Symptoms - Less than 30% cases

Toe syndactyly Spina bifida Hand polydactyly Aplasia/Hypoplasia of the cerebellum Preaxial polydactyly Abnormal facial shape Complete atrioventricular canal defect Cleft lip Coarctation of aorta Scoliosis Cleft upper lip Bifid uvula Talipes equinovarus Congenital diaphragmatic hernia Frontal bossing Aplasia/Hypoplasia of the corpus callosum Macrocephaly Flat face Depressed nasal bridge Sensorineural hearing impairment Intellectual disability, mild Triphalangeal thumb Agenesis of corpus callosum Apraxia Ataxia Tall stature Oculomotor apraxia Lobulated tongue Ambiguous genitalia Vertebral fusion Hemiplegia/hemiparesis Abnormality of the vertebral column Hearing impairment Sprengel anomaly Abnormal cranial nerve morphology Low posterior hairline Sloping forehead Dandy-Walker malformation Ectopic anus Fused cervical vertebrae Renal hypoplasia/aplasia Wide anterior fontanel Abnormality of the ribs Short neck Nephronophthisis Low-set ears Abnormality of the shoulder Cognitive impairment Prominent occiput High palate Conductive hearing impairment Wide intermamillary distance Abnormality of the kidney Abnormality of the pinna Facial asymmetry Abnormality of the clavicle Anal atresia Webbed neck Short sternum Talipes Abnormal sacrum morphology Short columella Preaxial hand polydactyly Short middle phalanx of finger Hallux valgus Tarsal synostosis Aplasia/Hypoplasia of the thumb Absent radius Broad foot Abnormality of the wrist Abnormality of the face Preaxial foot polydactyly Abnormality of the nose Patellar aplasia Absent tibia Premature atrial contractions Rudimentary to absent tibiae Limb duplication Fibular duplication Abnormality of the metacarpal bones Heterotopia Congenital muscular torticollis Prominent forehead Aplasia of the ulna Cervical C2/C3 vertebral fusion Abnormal vertebral segmentation and fusion Decreased cervical spine mobility Limited neck range of motion Muscular hypotonia Dilatation Finger syndactyly Depressed nasal ridge Retinopathy Thin vermilion border Downturned corners of mouth Short foot Gliosis Limitation of joint mobility Prominent nose Underdeveloped nasal alae Retinal dystrophy Patent ductus arteriosus Micropenis Platyspondyly Abnormality of the diaphragm Neural tube defect Epicanthus Brachydactyly Respiratory insufficiency Thin upper lip vermilion Narrow chest Abnormal lung lobation Micromelia Oral cleft Intestinal malrotation Short ribs Polycystic kidney dysplasia Cystic hygroma Thoracic dysplasia Calvarial skull defect Anencephaly Vertebral wedging Polymicrogyria Wide nasal bridge Anteverted nares Hydronephrosis Seizures Nystagmus Dysarthria Abnormal cerebellum morphology Primary adrenal insufficiency Cerebellar vermis hypoplasia Large for gestational age Elongated superior cerebellar peduncle Hernia Omphalocele Holoprosencephaly Abnormality of neuronal migration Hypoplastic ischia Aganglionic megacolon Inguinal hernia Hamartoma of tongue Pneumonia Retrognathia Cutaneous syndactyly Cutaneous finger syndactyly Subvalvular aortic stenosis Common atrium Duplication of phalanx of hallux Anomalous origin of one pulmonary artery from ascending aorta Benign neoplasm of the central nervous system 2-3 finger syndactyly Imperforate hymen Cor triatriatum Generalized hypotonia Intellectual disability, severe Hypospadias Abnormality of the skeletal system Aortopulmonary window Horseshoe kidney Short palpebral fissure Median cleft lip Postaxial foot polydactyly Abnormality of metabolism/homeostasis Severe short stature Narrow mouth Abnormal cardiac septum morphology Tetralogy of Fallot Hypocalcemia Pulmonary artery atresia Nasal speech Transposition of the great arteries Submucous cleft hard palate Hypoparathyroidism Double outlet right ventricle Truncus arteriosus Maternal diabetes Mirror image polydactyly


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