Abnormality of the skeletal system, and Delayed eruption of teeth

Low match BRACHYDACTYLY, TYPE E2; BDE2

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: MESH ORPHANET OMIM MENDELIAN

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

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

SOURCES: MESH OMIM ORPHANET MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

• Hypertelorism
• Abnormality of the dentition
• Syndactyly
• Midface retrusion
• Clinodactyly

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MESH MENDELIAN

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

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

SOURCES: MESH ORPHANET MENDELIAN

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

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

SOURCES: OMIM ORPHANET MESH MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN