Abnormality of the skeletal system, and Delayed eruption of teeth

Diseases related with Abnormality of the skeletal system and Delayed eruption of teeth

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


Top matches:

Low match BRACHYDACTYLY, TYPE E2; BDE2


Related symptoms:

  • Short stature
  • Brachydactyly
  • Delayed eruption of teeth
  • Short metacarpal
  • Oligodontia


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE E2; BDE2

Low match DENTIN DYSPLASIA TYPE I


Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.

DENTIN DYSPLASIA TYPE I Is also known as dtdp1|dentin dysplasia, shields type i|dd-i|rootless teeth|radicular dentin dysplasia

Related symptoms:

  • Carious teeth
  • Delayed eruption of teeth
  • Microdontia
  • Increased bone mineral density
  • Oligodontia


SOURCES: ORPHANET OMIM MENDELIAN

More info about DENTIN DYSPLASIA TYPE I

Low match X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY


IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (OMIM ), together with osteopetrosis and lymphedema (OMIM ) in some patients, and immunodeficiency without ectodermal dysplasia (OMIM ). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see {161561}) production, resulting in impaired IFNG (OMIM ) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY Is also known as atypical mycobacteriosis, familial, x-linked 1|x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency|immunodeficiency 33, mycobacteriosis, x-linked|amcbx1|x-linked msmd due to ikbkg deficiency|x-linked msmd due to nemo deficie

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Delayed eruption of teeth
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY

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Other less relevant matches:

Low match HYPODONTIA-DYSPLASIA OF NAILS SYNDROME


Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.

HYPODONTIA-DYSPLASIA OF NAILS SYNDROME Is also known as hypodontia-nail dysgenesis syndrome|tns|witkop syndrome|ectd3|ectodermal dysplasia 3, witkop type|nail dysplasia with hypodontia|tooth-and-nail syndrome|tooth and nail syndrome|ectodermal dysplasia 3, tooth/nail type

Related symptoms:

  • Abnormality of the dentition
  • Sparse hair
  • Everted lower lip vermilion
  • Delayed eruption of teeth
  • Hypodontia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HYPODONTIA-DYSPLASIA OF NAILS SYNDROME

Low match ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A Is also known as hed|ectodermal dysplasia, hypohidrotic, autosomal dominant

Related symptoms:

  • Hyperhidrosis
  • Sparse hair
  • Hypotrichosis
  • Dry skin
  • Thick vermilion border


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A

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 ENAMEL-RENAL SYNDROME


Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.

ENAMEL-RENAL SYNDROME Is also known as enamel-renal-gingival syndrome|amelogenesis imperfecta and gingival fibromatosis syndrome|ers|amelogenesis imperfecta, hypoplastic, with nephrocalcinosis|enamel-renal syndrome|amelogenesis imperfecta-nephrocalcinosis syndrome|aigfs

Related symptoms:

  • Intellectual disability
  • Abnormality of the dentition
  • Renal insufficiency
  • Nephropathy
  • Delayed eruption of teeth


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ENAMEL-RENAL SYNDROME

Low match SPONDYLOENCHONDRODYSPLASIA


Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.

SPONDYLOENCHONDRODYSPLASIA Is also known as spencd|spondylometaphyseal dysplasia with enchondromatous changes|spondyloenchondromatosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Abnormality of the dentition
  • Kyphosis
  • Kyphoscoliosis


SOURCES: MESH ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA

Low match PYLE DISEASE


Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.

PYLE DISEASE Is also known as metaphyseal dysplasia|metaphyseal dysplasia, pyle type

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Abnormality of the skeletal system
  • Mandibular prognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYLE DISEASE

Low match CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE


Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.

CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE Is also known as cnf|finnish congenital nephrosis|nephrotic syndrome, congenital

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Edema
  • Renal insufficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Delayed eruption of teeth

Symptoms // Phenotype % cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
Conical tooth Uncommon - Between 30% and 50% cases
Ectodermal dysplasia Uncommon - Between 30% and 50% cases
Short stature Rare - less than 30% cases
Recurrent infections Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Platyspondyly Delayed eruption of permanent teeth Renal insufficiency Increased number of teeth Agenesis of permanent teeth Abnormality of dental morphology Fine hair Hypodontia Sparse hair Hypohidrotic ectodermal dysplasia Intellectual disability Microdontia Pulp stones Open bite Carious teeth Anterior open bite Oligodontia Mandibular prognathia Abnormality of ulnar metaphysis Abnormality of epiphysis morphology Rhizomelia Spondylometaphyseal dysplasia Progressive spastic quadriplegia Large iliac wings Abnormality of the tibial metaphysis Metaphyseal enchondromatosis Abnormality of radial metaphyses Genu valgum Arthralgia Scoliosis Muscle weakness Pain Short dental roots Abnormality of the metaphysis Abnormal form of the vertebral bodies Increased circulating osteocalcin level Abnormality of dental color Enuresis nocturna Abnormality of calcium-phosphate metabolism Impaired renal concentrating ability Yellow-brown discoloration of the teeth Medullary nephrocalcinosis Hypophosphaturia Dagger-shaped pulp calcifications Increased susceptibility to fractures Kyphosis Kyphoscoliosis Hyperlordosis Short metacarpal Micromelia Cerebral calcification Lumbar hyperlordosis Reduced bone mineral density Limited elbow extension Metaphyseal widening Tubular atrophy Hyperlipidemia Hypercholesterolemia Hypoalbuminemia Pyloric stenosis Glomerulosclerosis Neonatal respiratory distress Focal segmental glomerulosclerosis Hypoproteinemia Abdominal distention Abnormality of the renal tubule Diffuse mesangial sclerosis Steroid-resistant nephrotic syndrome Congenital nephrotic syndrome Mesangial hypercellularity Elevated amniotic fluid alpha-fetoprotein Podocyte foot process effacement Nephrotic syndrome Stage 5 chronic kidney disease Abnormality of the thorax Failure to thrive Cubitus valgus Metaphyseal dysplasia Thickened calvaria Hypoplastic frontal sinuses Craniofacial osteosclerosis Absent paranasal sinuses Growth delay Edema Confusion Hypothyroidism Gastroesophageal reflux Proteinuria Abnormality of the kidney Respiratory tract infection Scarring Small for gestational age Hypocalciuria Polyuria Gingival fibromatosis Hypotrichosis Concave nail Toenail dysplasia Nail pits Ridged fingernail Microdontia of primary teeth Thin toenail Hyperhidrosis Dry skin Hypoplastic fingernail Thick vermilion border Nail dysplasia Thin skin Hypohidrosis Sparse and thin eyebrow Sparse eyelashes Sparse eyebrow Ridged nail Fragile nails Anodontia Dentinogenesis imperfecta limited to primary teeth Double tooth Immunodeficiency Periapical bone loss No permanent dentition Lymphedema Recurrent bacterial infections Osteopetrosis Generalized osteosclerosis Hypoplastic toenails Everted lower lip vermilion Taurodontia Small nail Abnormality of the nail Abnormality of the fingernails Polycystic ovaries Increased bone mineral density Anhidrosis Heat intolerance Enuresis Short metatarsal Turricephaly Coronal craniosynostosis Sagittal craniosynostosis Fingernail dysplasia Lambdoidal craniosynostosis Flat forehead Brachydactyly Nephropathy Scaphocephaly Overgrowth Hypoplasia of dental enamel Gingival overgrowth Nephrocalcinosis Abnormality of dental enamel Obliteration of the pulp chamber Amelogenesis imperfecta Papilledema Scotoma Slow-growing hair Clinodactyly Absent nipple Anhidrotic ectodermal dysplasia Delayed eruption of primary teeth Short eyelashes Hypertelorism Syndactyly Midface retrusion Brachycephaly Hallux valgus Proptosis Craniosynostosis Hypoplasia of the maxilla Dental malocclusion Short phalanx of finger Trigonocephaly 2-3 toe syndactyly Heavy proteinuria



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