Abnormality of the skeletal system, and Dolichocephaly

Diseases related with Abnormality of the skeletal system and Dolichocephaly

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


Top matches:

Low match ISOLATED SCAPHOCEPHALY


Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.

ISOLATED SCAPHOCEPHALY Is also known as isolated dolichocephaly|non-syndromic sagittal synostosis

Related symptoms:

  • Frontal bossing
  • Dolichocephaly
  • Increased intracranial pressure
  • Prominent occiput


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED SCAPHOCEPHALY

Low match OSTEOGENESIS IMPERFECTA TYPE 1


Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.

OSTEOGENESIS IMPERFECTA TYPE 1 Is also known as van der hoeve syndrome|adair-dighton syndrome|non-deforming osteogenesis imperfecta|oi type 1|mild osteogenesis imperfecta

Related symptoms:

  • Short stature
  • Frontal bossing
  • Mandibular prognathia
  • Dolichocephaly
  • Wormian bones


SOURCES: ORPHANET OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 1

Low match MENTAL RETARDATION, X-LINKED 72; MRX72


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Macrocephaly
  • Obesity


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 72; MRX72

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Other less relevant matches:

Low match TRICHO-DENTO-OSSEOUS SYNDROME


Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.

TRICHO-DENTO-OSSEOUS SYNDROME Is also known as tdo syndrome

Related symptoms:

  • Macrocephaly
  • Frontal bossing
  • Skeletal dysplasia
  • Dolichocephaly
  • Carious teeth


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHO-DENTO-OSSEOUS SYNDROME

Low match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE


Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

Related symptoms:

  • Scoliosis
  • Depressed nasal bridge
  • Brachydactyly
  • Frontal bossing
  • Kyphosis


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

Low match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Low match CRANIOSYNOSTOSIS 1; CRS1


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). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. Genetic Heterogeneity of CraniosynostosisCraniosynostosis-2 (CRS2 ) is caused by mutation in the MSX2 gene (OMIM ) on chromosome 5q. Craniosynostosis-3 (CRS3 ) is caused by mutation in the TCF12 gene (OMIM ) on chromosome 15q21. Craniosynostosis-4 (CRS4 ) is caused by mutation in the ERF gene (OMIM ) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5 ) is conferred by variation in the ALX4 gene (OMIM ) on chromosome 7p21. Craniosynostosis-6 (CRS6 ) is caused by mutation in the ZIC1 gene (OMIM ) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7 ) is conferred by variation in the SMAD6 gene (OMIM ) on chromosome 15q22.

CRANIOSYNOSTOSIS 1; CRS1 Is also known as crs|craniostenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Blindness
  • Clinodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 1; CRS1

Low match CRANIOSYNOSTOSIS-DENTAL ANOMALIES


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

Low match FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE


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

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Dolichocephaly

Symptoms // Phenotype % cases
Frontal bossing Uncommon - Between 30% and 50% cases
Craniosynostosis Uncommon - Between 30% and 50% cases
Proptosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Coronal craniosynostosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Dolichocephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Turricephaly Macrocephaly Trigonocephaly Intellectual disability Scaphocephaly

Rare Symptoms - Less than 30% cases


Micrognathia Clinodactyly Hypoplasia of the maxilla Hypertelorism Brachycephaly Increased number of teeth Wormian bones Mandibular prognathia Midface retrusion Anterior plagiocephaly Brachydactyly Blindness Unicoronal synostosis Bicoronal synostosis Shallow orbits Metopic synostosis Brachyturricephaly Cloverleaf skull Telecanthus Visual field defect Triphalangeal thumb Hypotelorism Narrow forehead Broad hallux phalanx Hypermetropia Cleft soft palate Oxycephaly Rickets Sagittal craniosynostosis Toe syndactyly High forehead Upslanted palpebral fissure Intellectual disability, mild Ventriculomegaly High palate Flat forehead Lambdoidal craniosynostosis Fingernail dysplasia Papilledema Hyperostosis Scotoma Hallux valgus 2-3 toe syndactyly Short phalanx of finger Dental malocclusion Delayed eruption of teeth Syndactyly Open bite Hyperthyroidism Abnormality of the dentition Vertebral wedging Headache Carious teeth Fragile nails Taurodontia Amelogenesis imperfecta Curly hair Thickened calvaria Widely spaced teeth Increased bone mineral density Abnormality of the hair Hypoplasia of dental enamel Microdontia Skeletal dysplasia Abnormality of the mastoid Stereotypy Long face Autism Hyperactivity Obesity Global developmental delay Bowing of the legs Increased susceptibility to fractures Short stature Prominent occiput Increased intracranial pressure Dry hair Obliteration of the calvarial diploe Downslanted palpebral fissures Prominent forehead Myopia Acromesomelia Ovoid vertebral bodies Beaking of vertebral bodies Sprengel anomaly Disproportionate short stature Bowing of the long bones Abnormal form of the vertebral bodies Joint hyperflexibility Joint stiffness Hyperlordosis Kyphosis Flexion contracture Depressed nasal bridge Scoliosis Externally rotated hips Perisylvian polymicrogyria Cerebellar dysplasia Overlapping fingers Polymicrogyria Talipes Arthrogryposis multiplex congenita Cerebellar hypoplasia Talipes equinovarus Craniofacial dysostosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Polyhydramnios, related diseases and genetic alterations

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