Hypertelorism, and Low-set, posteriorly rotated ears

Diseases related with Hypertelorism and Low-set, posteriorly rotated ears

In the following list you will find some of the most common rare diseases related to Hypertelorism and Low-set, posteriorly rotated ears that can help you solving undiagnosed cases.

Top matches:

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns|neurofibromatosis type 1-noonan syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

High match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

High match LEGIUS SYNDROME

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS SYNDROME

Other less relevant matches:

High match FRONTORHINY

Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

FRONTORHINY Is also known as frontonasal dysplasia type 1|isolated median cleft face syndrome|alx3-related frontonasal dysplasia

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about FRONTORHINY

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 Is also known as herva disease|multiple contracture syndrome, finnish type|lccs|lccs1

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Top 5 symptoms//phenotypes associated to Hypertelorism and Low-set, posteriorly rotated ears

Symptoms // Phenotype % cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Low-set, posteriorly rotated ears. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Pulmonic stenosis Cleft palate Atrial septal defect Macrocephaly Global developmental delay Recurrent fractures Camptodactyly of finger Scoliosis Webbed neck High palate

Rare Symptoms - Less than 30% cases

Curly hair Micrognathia Abnormal facial shape Sparse eyebrow Posteriorly rotated ears Ventricular septal defect Microphthalmia Cataract Abnormality of the ribs Polyhydramnios Failure to thrive Arachnodactyly Anteverted nares Proptosis Preauricular skin tag Strabismus Prolonged bleeding time Severe global developmental delay Wide nasal bridge Abnormality of the thorax Abnormality of cardiovascular system morphology Specific learning disability Multiple cafe-au-lait spots Cryptorchidism Hypertrophic cardiomyopathy Folate-unresponsive megaloblastic anemia Fine hair Poikilocytosis Impaired T cell function Edema Oroticaciduria Skeletal muscle atrophy Orotic acid crystalluria Bilateral ptosis Pyrimidine-responsive megaloblastic anemia Reduced orotidine 5-prime phosphate decarboxylase activity Megaloblastic anemia Hemangioma Flexion contracture Cardiomyopathy Aminoaciduria Anisocytosis Abnormality of the liver Elbow ankylosis Anemia Arthropathy Splenomegaly Immunodeficiency Patent ductus arteriosus Recurrent respiratory infections Hematuria Abnormal toenail morphology Neutropenia Absent eyebrow Aciduria Hip dysplasia Meningitis Pulmonary hypoplasia Abnormality of the ureter Arthrogryposis multiplex congenita Abnormal form of the vertebral bodies Limitation of joint mobility Abnormality of coagulation Broad forehead Dental malocclusion Wide intermamillary distance Thick lower lip vermilion Sparse and thin eyebrow Cubitus valgus Bilateral cryptorchidism Sparse hair Paucity of anterior horn motor neurons Coarse facial features High forehead Blue irides High anterior hairline Pectus excavatum of inferior sternum Low-set ears Peripheral neuropathy Myopia Depressed nasal bridge Widening of cervical spinal canal Hyperkeratosis Abnormality of the elbow Pterygium Congenital contracture Spinal muscular atrophy Akinesia Multiple joint contractures Abnormality of the hip bone Slender long bone Fetal akinesia sequence Abnormality of the spinal cord Abnormal cortical bone morphology Amniotic constriction ring Mitral valve prolapse Ichthyosis Hypoplasia of the musculature Peripheral axonal neuropathy Abnormal renal morphology Abnormality of the amniotic fluid Narrow pelvis bone Bullet-shaped distal phalanx of the hallux Hypoplasia of the zygomatic bone Multiple lipomas Attention deficit hyperactivity disorder Abnormality of skin pigmentation High, narrow palate Triangular face Low posterior hairline Cafe-au-lait spot Neurofibromas Abnormality of the sternum Neoplasm Freckling Neoplasm of the lung Lisch nodules Axillary freckling Brachydactyly Iris coloboma Hypoplasia of the maxilla Lumbar hyperlordosis Hyperactivity Generalized hypotonia Finger clinodactyly Intellectual disability, severe Dysphagia Abnormality of the face Abnormality of the helix Abnormality of the lymphatic system Abdominal wall muscle weakness Microcephaly Muscular hypotonia Intrauterine growth retardation Inguinal hernia Cat cry Finger syndactyly Joint hyperflexibility Small hand Round face Microretrognathia Abnormality of the voice High pitched voice Abnormality of bone mineral density Encephalocele Aplasia/Hypoplasia of the corpus callosum Turricephaly Brachycephaly Small face Hand clenching Abnormal oral frenulum morphology Abnormality iris morphology Frontal bossing Short nose Long philtrum Narrow mouth Long fingers Joint stiffness Craniosynostosis Narrow chest Talipes Choanal atresia Delayed cranial suture closure Femoral bowing Underdeveloped supraorbital ridges Central apnea Interphalangeal joint contracture of finger Diabetes insipidus Midline nasal groove Hypopituitarism Widow's peak Bifid tongue Hypoplastic frontal sinuses Dermoid cyst Congenital conductive hearing impairment Cranium bifidum occultum Lipoma of corpus callosum Basal encephalocele Toe syndactyly Seizures Growth delay Behavioral abnormality Neonatal hypotonia Autistic behavior Coloboma Short philtrum Small for gestational age Neuropathic arthropathy


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