Abnormality of the skeletal system, and Proptosis

Diseases related with Abnormality of the skeletal system and Proptosis

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


Top matches:

Low match ROBINOW-SORAUF SYNDROME


ROBINOW-SORAUF SYNDROME Is also known as acrocephalosyndactyly, robinow-sorauf type|craniosynostosis-bifid hallux syndrome

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Malar flattening
  • Flat face
  • Plagiocephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ROBINOW-SORAUF SYNDROME

Low match ISOLATED BRACHYCEPHALY


Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.

ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Brachydactyly
  • Midface retrusion


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED BRACHYCEPHALY

Low match GENERALIZED RESISTANCE TO THYROID HORMONE


GENERALIZED RESISTANCE TO THYROID HORMONE Is also known as deafness-thyroid hormone resistance syndrome|refetoff syndrome|gthr|thyroid hormone unresponsiveness

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed skeletal maturation
  • Proptosis
  • Pectus carinatum


SOURCES: OMIM ORPHANET MENDELIAN

More info about GENERALIZED RESISTANCE TO THYROID HORMONE

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Other less relevant matches:

Low match JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM


Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Myopia
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM

Low match FAMILIAL GESTATIONAL HYPERTHYROIDISM


Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see {118860}) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (OMIM ), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997).

Related symptoms:

  • Motor delay
  • Tremor
  • Vomiting
  • Diarrhea
  • Hyperhidrosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL GESTATIONAL HYPERTHYROIDISM

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 HOLOPROSENCEPHALY 11; HPE11


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum
  • Proptosis


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 11; HPE11

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

Low match MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5


Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

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

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Craniosynostosis Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scaphocephaly

Rare Symptoms - Less than 30% cases


Short stature Motor delay Hyperactivity Hyperthyroidism Ventriculomegaly Clinodactyly Hypoplasia of the maxilla Agenesis of corpus callosum Trigonocephaly Goiter Dolichocephaly Turricephaly Coronal craniosynostosis Microcephaly Graves disease Seizures Pectus carinatum Shallow orbits Craniofacial dysostosis Brachycephaly Delayed eruption of teeth Fingernail dysplasia Sagittal craniosynostosis Papilledema Increased number of teeth Scotoma Hallux valgus 2-3 toe syndactyly Flat face Short phalanx of finger Dental malocclusion Plagiocephaly Abnormality of the dentition Syndactyly Flat forehead Polysplenia Holoprosencephaly Hypotelorism Growth hormone deficiency Thick eyebrow Oral cleft Synophrys Cleft lip Broad hallux Cleft palate Lambdoidal craniosynostosis High palate Global developmental delay Attention deficit hyperactivity disorder Thick corpus callosum Small cerebral cortex Hypoplasia of the frontal lobes Prominent glabella Partial agenesis of the corpus callosum Cortical gyral simplification Cortical dysplasia Narrow forehead Sloping forehead Highly arched eyebrow Polymicrogyria Neurological speech impairment Intellectual disability, moderate Macrocephaly Cerebellar hypoplasia Intellectual disability, severe Hypoplasia of the corpus callosum Delayed speech and language development Growth delay Broad hallux phalanx Open bite Toe syndactyly High forehead Mandibular prognathia Upslanted palpebral fissure Intellectual disability, mild Malar flattening Long nose Oxycephaly Anterior plagiocephaly Kyphoscoliosis Multiple joint dislocation Bilateral talipes equinovarus Chorioretinal coloboma Progressive hearing impairment Joint dislocation High myopia Retinal detachment Iris coloboma Talipes Coloboma Joint laxity Glaucoma Underdeveloped supraorbital ridges Kyphosis Talipes equinovarus Myopia Scoliosis Metacarpal synostosis Thyroid hormone receptor defect Sensorineural hearing impairment Sprengel anomaly Epiphyseal stippling Abnormality of the thyroid gland Delayed skeletal maturation Convex nasal ridge Cervical kyphosis Tremor Small for gestational age Thyroid hyperplasia Narrow nose Hyperostosis Rickets Duplication of phalanx of hallux Brachydactyly Telecanthus Blindness Micrognathia Strabismus Activating thyroid-stimulating hormone receptor defect Hyperemesis gravidarum Thyrotoxicosis with diffuse goiter Autoimmune antibody positivity Vomiting Hand tremor Broad forehead Agitation Spontaneous abortion Sleep disturbance Tachycardia Nausea Nausea and vomiting Weight loss Increased intracranial pressure Hyperhidrosis Diarrhea Unilateral polymicrogyria



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