Abnormality of the skeletal system, and Arachnodactyly

Diseases related with Abnormality of the skeletal system and Arachnodactyly

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


Top matches:

Low match ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1


Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010).Citing the revised Ghent criteria for Marfan syndrome, Loeys et al. (2010) proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS). Genetic Heterogeneity of Isolated Ectopia LentisAn autosomal recessive form of isolated ectopia lentis (ECTOL2 ) is caused by mutation in the ADAMTSL4 gene (OMIM ).

Related symptoms:

  • Visual impairment
  • Joint stiffness
  • Arachnodactyly
  • Ectopia lentis
  • Disproportionate tall stature


SOURCES: OMIM MENDELIAN

More info about ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1

Low match SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3


Related symptoms:

  • Scoliosis
  • Camptodactyly
  • Arachnodactyly
  • Abnormal vertebral morphology
  • Vertebral segmentation defect


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3

Low match LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME


Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.

Related symptoms:

  • Abnormality of the skeletal system
  • Brachycephaly
  • Craniosynostosis
  • Arachnodactyly
  • Encephalocele


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME

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Other less relevant matches:

Low match TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME


Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.

TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME Is also known as tall stature-scoliosis-macrodactyly of the halluces syndrome

Related symptoms:

  • Scoliosis
  • Osteopenia
  • Arachnodactyly
  • Hip dysplasia
  • Tall stature


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME

Low match AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9


AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 Is also known as aortic aneurysm, thoracic, with or without aortic dissection

Related symptoms:

  • High palate
  • Hypertension
  • Dilatation
  • Pectus excavatum
  • Stroke


SOURCES: OMIM MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9

Low match BRACHYDACTYLY, TYPE A1, D; BDA1D


Related symptoms:

  • Delayed speech and language development
  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE A1, D; BDA1D

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Low match HAIM-MUNK SYNDROME


Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.

HAIM-MUNK SYNDROME Is also known as palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome|palmoplantar keratoderma-periodontopathia-onychogryposis syndrome|keratosis palmoplantaris-periodontopathia-onychogryposis syndrome|cochin jewish disorder|keratosis palmoplantaris with p

Related symptoms:

  • Hyperkeratosis
  • Pes planus
  • Arachnodactyly
  • Palmoplantar keratoderma
  • Palmoplantar hyperkeratosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HAIM-MUNK SYNDROME

Low match HAMEL CEREBRO-PALATO-CARDIAC SYNDROME


Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

Low match GLAUCOMA SECONDARY TO SPHEROPHAKIA/ECTOPIA LENTIS AND MEGALOCORNEA


Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.

GLAUCOMA SECONDARY TO SPHEROPHAKIA/ECTOPIA LENTIS AND MEGALOCORNEA Is also known as megalocornea-spherophakia-secondary glaucoma syndrome

Related symptoms:

  • High palate
  • Visual impairment
  • Hypertension
  • Myopia
  • Pectus excavatum


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLAUCOMA SECONDARY TO SPHEROPHAKIA/ECTOPIA LENTIS AND MEGALOCORNEA

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

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Pectus excavatum Uncommon - Between 30% and 50% cases
Visual impairment Rare - less than 30% cases
Ectopia lentis Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Hypertension Intellectual disability Pectus carinatum Slender finger Tall stature Osteolytic defects of the phalanges of the hand Periodontitis Congenital palmoplantar keratosis Thick nail Recurrent bacterial skin infections Severe periodontitis Tapering pointed ends of distal finger phalanges Palmoplantar keratoderma Palmoplantar hyperkeratosis Long foot Pes planus Hyperkeratosis Slender build Abnormality of the musculature Abnormality of the sternum Nasal speech Growth abnormality Narrow face Hypoplasia of the maxilla Long face Narrow chest Prominent nasal bridge Mandibular prognathia Global developmental delay Microcephaly Short stature Blurred vision Increased arm span Deep anterior chamber Primary congenital glaucoma Microspherophakia Iridodonesis Iris atrophy Anterior synechiae of the anterior chamber Homocystinuria Buphthalmos Megalocornea Congenital glaucoma Retinal detachment Kyphosis Hypermetropia Glaucoma Myopia Cupped ear Bulbous nose Narrow mouth Malar flattening Atrial septal defect Wide nasal bridge Cleft palate Micrognathia Prominent forehead Short distal phalanx of the 2nd finger Intellectual disability, mild Calvarial skull defect Long hallux Irregular vertebral endplates Long fingers Broad hallux Coxa valga Finger clinodactyly Hip dysplasia Osteopenia Multiple skeletal anomalies Humeroradial synostosis Oligodactyly Proximal femoral epiphysiolysis Occipital encephalocele Limited elbow extension Encephalocele Craniosynostosis Brachycephaly Supernumerary vertebral ossification centers Vertebral segmentation defect Abnormal vertebral morphology Camptodactyly Disproportionate tall stature Macrodactyly Dilatation Intellectual disability, severe Clinodactyly of the 5th finger Frontal bossing Macrocephaly Joint stiffness Short proximal phalanx of thumb Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Poor motor coordination Short distal phalanx of the thumb Short 2nd finger Short proximal phalanx of finger Short middle phalanx of the 5th finger Clinodactyly Stroke Syndactyly Brachydactyly Delayed speech and language development Thoracic aortic aneurysm Paroxysmal atrial fibrillation Aortic dissection Aortic aneurysm Left ventricular hypertrophy Atrial fibrillation Ventricular hypertrophy Mitral valve prolapse Axial myopia



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

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