Abnormality of the skeletal system, and Pectus excavatum

Diseases related with Abnormality of the skeletal system and Pectus excavatum

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


Top matches:

Low match LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME


Related symptoms:

  • High palate
  • Pectus excavatum
  • Choanal atresia
  • Lymphedema
  • Pericardial effusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME

Low match FAMILIAL OSSIFYING FIBROMA


Osteofibrous dysplasia is a tumor-like bone lesion that usually presents as a painless swelling or anterior bowing of the tibia (Park et al., 1993), although pain may occur in up to 25% of cases and presentation may follow pathologic fracture. Most reports of osteofibrous dysplasia describe isolated tibial lesions, although a significant subgroup describe isolated and ipsilateral fibular involvement. Cases with ulnar and radial involvement have been reported (summary by Hunter and Jarvis, 2002).OSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation; the residuum is most commonly mild bowing at the affected site. Prior to their resolution, secondary complications such as nonunion fractures and pseudoarthrosis formation can occur. Histologically, OSFD lesions exhibit 'zonal architecture' characterized by spindle-shaped fibroblast-like cells in the center of the lesions that are progressively replaced with peripherally located, more differentiated cells from the osteoblastic lineage. The cells lying at the center of the lesions stain for markers of undifferentiated mesenchymal cell states, whereas bridging zones of osteoid with surface osteoblasts and embedded osteocytic cells are interspersed between the lesions. In OSFD, the unossified zones eventually mineralize after replacement with normal osteoid and, finally, bone. This histologic progression corresponds with the clinical and radiographic resolution of the lesions (summary by Gray et al., 2015).Hunter and Jarvis (2002) noted that there may be a relationship between osteofibrous dysplasia and adamantinoma of long bones (OMIM ), although the latter condition usually presents at a later age.

FAMILIAL OSSIFYING FIBROMA Is also known as multiple ossifying fibroma|tibia, bowing of, with pseudarthrosis and pectus excavatum|ofd

Related symptoms:

  • Neoplasm
  • Pain
  • Pectus excavatum
  • Tibial bowing
  • Pathologic fracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSSIFYING FIBROMA

Low match SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE


Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Is also known as sed, maroteaux type|brachyolmia, maroteaux type|pseudo-morquio syndrome type 2|pseudo-morquio syndrome, type 2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Intellectual disability, mild
  • Pectus excavatum
  • Clinodactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

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Other less relevant matches:

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 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 GILLES DE LA TOURETTE SYNDROME; GTS


Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated with behavioral abnormalities. Tics are sudden, brief, intermittent, involuntary or semi-voluntary movements (motor tics) or sounds (phonic or vocal tics). They typically consist of simple, coordinated, repetitive movements, gestures, or utterances that mimic fragments of normal behavior. Motor tics may range from simple blinking, nose twitching, and head jerking to more complex throwing, hitting, or making rude gestures. Phonic tics include sniffling, throat clearing, blowing, coughing, echolalia, or coprolalia. Males are affected about 3 times more often than females, and onset usually occurs between 3 and 8 years of age. By age 18 years, more than half of affected individuals are free of tics, but they may persist into adulthood (review by Jankovic, 2001).

GILLES DE LA TOURETTE SYNDROME; GTS Is also known as ts|tourette syndrome|tourette disorder

Related symptoms:

  • Behavioral abnormality
  • Depressivity
  • Pectus excavatum
  • Myoclonus
  • Hyperactivity


SOURCES: MESH OMIM MENDELIAN

More info about GILLES DE LA TOURETTE SYNDROME; GTS

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 MENTAL RETARDATION, X-LINKED 93; MRX93


MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

Low match HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3

Low match CILIARY DYSKINESIA, PRIMARY, 30; CILD30


CILIARY DYSKINESIA, PRIMARY, 30; CILD30 Is also known as ciliary dyskinesia, primary, 30, with or without situs inversus

Related symptoms:

  • Respiratory distress
  • Pectus excavatum
  • Cough
  • Dyskinesia
  • Asthma


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 30; CILD30

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

Symptoms // Phenotype % cases
High palate Uncommon - Between 30% and 50% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases
Pectus carinatum Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Macrocephaly Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Frontal bossing Kyphosis Prominent forehead Long face Cough Cryptorchidism Pes planus Scoliosis Severe short stature Arachnodactyly Short stature Chronic bronchitis Recurrent lower respiratory tract infections Muscular hypotonia Generalized hypotonia Slender build Long foot Abnormality of the musculature Abnormality of the sternum Nasal obstruction Nasal speech Growth abnormality Narrow face Hypoplasia of the maxilla Narrow chest Macrotia Prominent nasal bridge Mandibular prognathia Abdominal situs inversus Allergic rhinitis Intellectual disability, severe Nasal polyposis Productive cough Hair-pulling Phonic tics Respiratory insufficiency due to defective ciliary clearance Jerky head movements Motor tics Delayed speech and language development Rhinitis Situs inversus totalis Primary amenorrhea Neonatal respiratory distress Bronchiectasis Recurrent otitis media Otitis media Asthma Dyskinesia Dextrocardia Respiratory distress Unilateral renal agenesis Ciliary dyskinesia Anosmia Hypogonadotrophic hypogonadism Hypotelorism Protruding ear Cleft upper lip Micropenis Hypogonadism Cleft palate Sensorineural hearing impairment Restless legs Hearing impairment Seizures Cupped ear Pointed chin Tall stature Triangular face Stuttering Tics Facial grimacing Small nail Stroke Dilatation Hypertension Moderately short stature Vertebral wedging Biconcave vertebral bodies Rhizomelia Blue sclerae Recurrent fractures Osteopenia Kyphoscoliosis Small epiphyses Metaphyseal irregularity Wide intermamillary distance Ventricular hypertrophy Platyspondyly Clinodactyly Subperiosteal bone formation Pseudoarthrosis Fibular hypoplasia Pathologic fracture Tibial bowing Pain Neoplasm Posterior choanal atresia Hypoplastic nipples Pericardial effusion Lymphedema Choanal atresia Mitral valve prolapse Atrial fibrillation Alcoholism Postural instability Disinhibition Dyslexia Echolalia Self-mutilation Muscle fibrillation Impulsivity Obsessive-compulsive behavior Self-injurious behavior Incoordination Hyperkinesis Arnold-Chiari malformation Stereotypy Involuntary movements Migraine Sleep disturbance Left ventricular hypertrophy Abnormality of movement Attention deficit hyperactivity disorder Autistic behavior Aggressive behavior Anxiety Autism Hyperactivity Myoclonus Depressivity Behavioral abnormality Thoracic aortic aneurysm Paroxysmal atrial fibrillation Aortic dissection Aortic aneurysm Absent outer dynein arms



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