Hypertelorism, and Dolichocephaly

Diseases related with Hypertelorism and Dolichocephaly

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

Top matches:

Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.

CRANIOSYNOSTOSIS-DENTAL ANOMALIES Is also known as kreiborg-pakistani syndrome

Related symptoms:

  • Hypertelorism
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion
  • Clinodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS-DENTAL ANOMALIES

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.

FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE Is also known as scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • High palate
  • Macrocephaly
  • Ventriculomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE

Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Motor delay
  • Epicanthus
  • Wide nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about BENIGN SAMARITAN CONGENITAL MYOPATHY

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

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

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Related symptoms:

  • Short stature
  • Hypertelorism
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 2; LPRD2

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Top 5 symptoms//phenotypes associated to Hypertelorism and Dolichocephaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Scaphocephaly Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Abnormal facial shape Synophrys Long face Downslanted palpebral fissures Microcephaly Seizures Narrow forehead Mandibular prognathia Depressed nasal bridge Trigonocephaly Midface retrusion

Rare Symptoms - Less than 30% cases

Pointed chin Ptosis Cafe-au-lait spot Hypoplasia of the maxilla Prominent forehead Prominent nose Wide nasal bridge Epicanthus Motor delay Abnormality of the skeletal system Craniosynostosis Delayed speech and language development Proptosis Short stature EEG abnormality Scoliosis Poor suck Upslanted palpebral fissure Intellectual disability, mild Thin upper lip vermilion Macrocephaly Aggressive behavior Short neck Brachycephaly Webbed neck Progressive microcephaly Short nose Macrotia Microphthalmia Intellectual disability, severe Anteverted nares Hydrocephalus Thick eyebrow Cleft palate Multiple lentigines Hypertrophic cardiomyopathy Dry skin Thick lower lip vermilion Cubitus valgus Abnormality of the sternum Curly hair Decreased muscle mass Thickened helices Cognitive impairment Feeding difficulties Dysphagia Atrial septal defect Pulmonic stenosis Hyperpigmentation of the skin Mild short stature Pectus carinatum Oral cleft Coloboma Tapered finger Hyperreflexia Talipes equinovarus Hypoplasia of the corpus callosum Babinski sign Brain atrophy Pes cavus Highly arched eyebrow Exencephaly Posteriorly rotated ears Hyperactivity Muscular hypotonia of the trunk Joint laxity Talipes Unsteady gait Spasticity Hypsarrhythmia Broad forehead Exotropia Hypermetropia Astigmatism Bulbous nose Microcornea Long eyelashes Hypotelorism Deep philtrum Small posterior fossa Absent thumb Abnormality of digit Facial cleft Single median maxillary incisor Postnatal microcephaly Cyclopia Proboscis Holoprosencephaly Flexion contracture Oval face Ventriculomegaly Centrally nucleated skeletal muscle fibers Weak cry Myopathic facies Fasciculations Thickened skin Lethargy Narrow mouth Hyporeflexia Craniofacial dysostosis Broad hallux phalanx Shallow orbits Open bite Toe syndactyly High forehead Flat forehead Internally nucleated skeletal muscle fibers Hallux valgus Syndactyly Clinodactyly Delayed eruption of teeth Dental malocclusion Short phalanx of finger 2-3 toe syndactyly Scotoma Lambdoidal craniosynostosis Increased number of teeth Papilledema Turricephaly Coronal craniosynostosis Sagittal craniosynostosis Fingernail dysplasia Functional respiratory abnormality Frog-leg posture Overlapping fingers Arachnodactyly Myopathy Areflexia Polyhydramnios Neonatal hypotonia Camptodactyly Small for gestational age High, narrow palate Growth delay Single transverse palmar crease Decreased fetal movement Joint contracture of the hand Respiratory insufficiency due to muscle weakness Akinesia Fetal akinesia sequence Abnormality of the dentition Narrow palate Malar flattening Truncal obesity Obesity Intellectual disability, moderate Short philtrum Smooth philtrum Wide nose Short chin Polyphagia Dental crowding Overweight Broad eyebrow Long eyebrows Absent speech Autism Attention deficit hyperactivity disorder Delayed ability to walk


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Cerebral atrophy, related diseases and genetic alterations Hepatomegaly and Blue sclerae, related diseases and genetic alterations Lymphoma and Sudden cardiac death, related diseases and genetic alterations Lymphoma and Palmoplantar keratoderma, related diseases and genetic alterations Ptosis and Dilated cardiomyopathy, related diseases and genetic alterations