Abnormality of the skeletal system, and Pectus carinatum

Diseases related with Abnormality of the skeletal system and Pectus carinatum

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


Top matches:

Low match EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO


EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

Low match OSTEOGENESIS IMPERFECTA, TYPE XIX; OI19


Osteogenesis imperfecta type XIX (OI19) is characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, as well as variable scoliosis and pectal deformity, and marked anterior angulation of the tibia (Lindert et al., 2016).

Related symptoms:

  • Short stature
  • Scoliosis
  • Pectus excavatum
  • Severe short stature
  • Kyphoscoliosis


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XIX; OI19

Low match SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5


SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5 Is also known as costovertebral segmentation anomalies|scoliosis, congenital, with or without rib anomalies|spondylocostal dysplasia|spondylothoracic dysostosis

Related symptoms:

  • Short stature
  • Scoliosis
  • Short neck
  • Severe short stature
  • Pectus carinatum


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5

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Other less relevant matches:

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 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

Low match OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES; EORVA


External ophthalmoplegia with rib and vertebral anomalies is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies (Di Gioia et al., 2018).

Related symptoms:

  • Scoliosis
  • Ptosis
  • Depressivity
  • Pectus carinatum
  • Ophthalmoplegia


SOURCES: OMIM MENDELIAN

More info about OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES; EORVA

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 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 OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3


Autosomal dominant osteopetrosis-3 is characterized by phenotypic variability. Some patients have typical features of osteopetrosis, including fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density, whereas other patients exhibit localized osteosclerosis and generalized osteopenia. OPTA3 represents a relatively malignant form of osteopetrosis in some patients who develop significant pancytopenia and hepatosplenomegaly (Bo et al., 2016).For a discussion of genetic heterogeneity of autosomal dominant osteopetrosis, see OPTA1 (OMIM ).

Related symptoms:

  • Anemia
  • Fatigue
  • Headache
  • Osteoporosis
  • Osteopenia


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3

Low match SPINOCEREBELLAR ATAXIA 43; SCA43


Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 43; SCA43

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

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Pectus excavatum Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Missing ribs Rare - less than 30% cases
High palate Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Abnormal vertebral morphology Hearing impairment Arachnodactyly Recurrent fractures Kyphoscoliosis Osteopenia Severe short stature Kyphosis Bilateral ptosis Proptosis Ptosis Progressive hearing impairment Headache Fatigue Osteoporosis Anemia Cervical kyphosis Multiple joint dislocation Hepatosplenomegaly Bilateral talipes equinovarus Chorioretinal coloboma Global developmental delay Coloboma Joint dislocation High myopia Retinal detachment Iris coloboma Talipes Joint laxity Glaucoma Talipes equinovarus Myopia Slender build Long foot Abnormality of the musculature Abnormality of the sternum Nasal speech Pancytopenia Generalized osteosclerosis Increased bone mineral density Gait ataxia Limb pain Hypometric saccades Cogwheel rigidity Distal lower limb amyotrophy Cerebellar vermis atrophy Limb ataxia Sensory impairment Polyneuropathy Distal sensory impairment Distal amyotrophy Peripheral axonal neuropathy Unsteady gait Rigidity Pes cavus Rickets Hyporeflexia Cerebellar atrophy Tremor Dysarthria Peripheral neuropathy Pain Nystagmus Ataxia Narrow face Osteopetrosis Premature loss of teeth Thickened calvaria Agenesis of permanent teeth Hyperostosis Growth abnormality Intellectual disability, severe Hypoplasia of the maxilla Vertebral fusion Atrial fibrillation Ventricular hypertrophy Mitral valve prolapse Stroke Dilatation Hypertension Posterior rib fusion Supernumerary ribs Butterfly vertebrae Low back pain Disproportionate short-trunk short stature Syringomyelia Hemivertebrae Aortic aneurysm Abnormality of the ribs Short neck Moderately short stature Vertebral wedging Biconcave vertebral bodies Rhizomelia Blue sclerae Halitosis Muscle fibrillation Pneumonia Skeletal muscle atrophy Fever Left ventricular hypertrophy Aortic dissection Long face Torticollis Narrow chest Prominent nasal bridge Mandibular prognathia Prominent forehead Intellectual disability, mild Frontal bossing Macrocephaly Intellectual disability Hypotropia Aplasia/Hypoplasia of the ribs Pseudoarthrosis External ophthalmoplegia Exotropia Paroxysmal atrial fibrillation Ophthalmoplegia Depressivity Thyroid hormone receptor defect Graves disease Sprengel anomaly Epiphyseal stippling Abnormality of the thyroid gland Goiter Convex nasal ridge Small for gestational age Delayed skeletal maturation Sensorineural hearing impairment Thoracic aortic aneurysm Palmomental reflex



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