Abnormality of the skeletal system, and Limb undergrowth

Diseases related with Abnormality of the skeletal system and Limb undergrowth

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


Top matches:

Low match RETINITIS PIGMENTOSA 81; RP81


Related symptoms:

  • Polydactyly
  • Pallor
  • Micromelia
  • Retinal degeneration
  • Abnormality of skin pigmentation


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 81; RP81

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK


Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK Is also known as immunoosseous dysplasia, krakow type

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Immunodeficiency
  • Skeletal dysplasia
  • Rhizomelia


SOURCES: OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK

Low match MECKEL SYNDROME, TYPE 9; MKS9


Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by Hopp et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Talipes equinovarus
  • Polydactyly
  • Renal cyst
  • Limb undergrowth
  • Ambiguous genitalia


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 9; MKS9

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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 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE


Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.

Related symptoms:

  • Short stature
  • Delayed skeletal maturation
  • Platyspondyly
  • Genu valgum
  • Micromelia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE

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 ABSENCE DEFORMITY OF LEG-CATARACT SYNDROME


Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.

Related symptoms:

  • Scoliosis
  • Cataract
  • Visual impairment
  • Hyperlordosis
  • Paralysis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ABSENCE DEFORMITY OF LEG-CATARACT SYNDROME

Low match AUTOSOMAL DOMINANT BRACHYOLMIA


Autosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.

AUTOSOMAL DOMINANT BRACHYOLMIA Is also known as brachyrachia|brachyolmia type 3|brachyolmia, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Short neck
  • Kyphosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT BRACHYOLMIA

Low match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A


Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas. MEN2B (OMIM ), characterized by MTC with or without pheochromocytoma and with characteristic clinical abnormalities such as ganglioneuromas of the lips, tongue and colon, but without hyperparathyroidism, is also caused by mutation in the RET gene (summary by Lore et al., 2001).For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A Is also known as pheochromocytoma and amyloid-producing medullary thyroid carcinoma|sipple syndrome|ptc syndrome

Related symptoms:

  • Neoplasm
  • Hypertension
  • Carcinoma
  • Aganglionic megacolon
  • Hyperparathyroidism


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A

Low match METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH


METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH Is also known as cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|chhv|cartilage-hair hypoplasia variant, skeletal manifestations only

Related symptoms:

  • Immunodeficiency
  • Severe short stature
  • Joint laxity
  • Hypotrichosis
  • Micromelia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH

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

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Micromelia Uncommon - Between 30% and 50% cases
Spondyloepiphyseal dysplasia Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Polydactyly Hyperlordosis Abnormality of epiphysis morphology Genu varum Kyphoscoliosis Short thorax Brachydactyly Kyphosis Platyspondyly Vertebral wedging Neoplasm Rhizomelia Immunodeficiency Optic nerve dysplasia Childhood-onset short-trunk short stature Proximal femoral metaphyseal irregularity Cranial nerve paralysis Abnormality of the lower limb Abnormality of femur morphology Lower limb undergrowth Hypermetropia Clinodactyly Increased vertebral height Barrel-shaped chest Spinal cord compression Short femoral neck Progressive cataract Radial deviation of finger Duplication involving bones of the feet Short neck Abnormality of the metaphysis Increased circulating cortisol level Hypertension Abnormality of the integument Cone-shaped epiphyses of the phalanges of the hand Abnormality of the immune system Abnormality of the vertebral column Metaphyseal dysplasia Metaphyseal irregularity Abnormality of pelvic girdle bone morphology Short long bone Abnormality of the hair Short metacarpal Hypotrichosis Joint laxity Elevated urinary epinephrine Carcinoma Elevated calcitonin Medullary thyroid carcinoma Parathyroid hyperplasia Carcinoid tumor Pheochromocytoma Thyroid carcinoma Parathyroid adenoma Neoplasm of the endocrine system Upper limb undergrowth Congenital cataract Hyperparathyroidism Aganglionic megacolon Anal atresia Abnormal form of the vertebral bodies Paralysis Ambiguous genitalia Osteopenia Pectus excavatum Aplasia/hypoplasia of the extremities Abnormality of the posterior cranial fossa Occipital encephalocele Bilateral talipes equinovarus Multicystic kidney dysplasia Renal dysplasia Encephalocele Renal cyst Recurrent fractures Talipes equinovarus Metaphyseal chondrodysplasia Spondyloepimetaphyseal dysplasia Mesomelia Hypercalcemia Skeletal dysplasia Global developmental delay Short ribs Abnormality of skin pigmentation Retinal degeneration Pectus carinatum Blue sclerae Visual impairment Dolichocephaly Cataract Acromesomelia Ovoid vertebral bodies Beaking of vertebral bodies Sprengel anomaly Disproportionate short stature Bowing of the long bones Pallor Joint hyperflexibility Joint stiffness Biconcave vertebral bodies Prominent forehead Frontal bossing Depressed nasal bridge Flat capital femoral epiphysis Irregular vertebral endplates Proportionate short stature Osteoarthritis Genu valgum Delayed skeletal maturation Moderately short stature Metaphyseal cupping of metacarpals



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