Affiliated tissues include bone and skin, and related phenotypes are short neck and nystagmus OMIM : 57 Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including [malacards.org]

Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations [ncbi.nlm.nih.gov]

Definition An autosomal recessive disorder characterized by global developmental delay with infantile onset, mental retardation, skeletal dysplasia, and short stature. [uniprot.org]

Homepage Rare diseases Search Search for a rare disease Spondyloepimetaphyseal dysplasia, Geneviève type Disease definition Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and [orpha.net]

[…] dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability [rarediseases.info.nih.gov]

This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

[…] irregularity Irregular wide portion of a long bone 0003025 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Muscular hypotonia Low or weak [rarediseases.info.nih.gov]

DMD causes progressive weakness and loss (atrophy) of skeletal and heart muscles. [checkrare.com]

facial features Coarse facial appearance 0000280 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Flared metaphysis Flared wide portion of long bone 0003015 Flat acetabular roof 0003180 Generalized hypotonia Decreased muscle tone Low muscle [rarediseases.info.nih.gov]

Causes Several conditions are associated with coarse facial features. [liquisearch.com]

[…] symptoms Hypoplasia of the corpus callosum Underdevelopment of part of brain called corpus callosum 0002079 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Seizures Seizure 0001250 Small basal ganglia 0012697 Strabismus [rarediseases.info.nih.gov]

Wide mouth Delayed skeletal maturation Low anterior hairline Dental crowding Intrauterine growth retardation Neonatal hypotonia Thin upper lip vermilion Hyperactivity Anteverted nares Delayed speech and language development High palate Cryptorchidism Strabismus [mendelian.co]

[…] facial appearance 0000280 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Flared metaphysis Flared wide portion of long bone 0003015 Flat acetabular roof 0003180 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hirsutism [rarediseases.info.nih.gov]

Diseases related with Generalized hypotonia and Hirsutism In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Hirsutism that can help you solving undiagnosed cases. [mendelian.co]

[…] drugs.Orpha Number: 168454Disease definitionSpondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly [malacards.org]

Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations [ncbi.nlm.nih.gov]

[…] dysplasia, Geneviève type Disease definition Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly [orpha.net]

Orpha Number: 168454 Disease definition Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly [rarediseases.info.nih.gov]

Even if the skeletal impairment is generalized, the bones of inferior limbs are more frequently involved, being often observed an angular deformation at this level, such as coxa vara, genu varum, genu valgum and valgum deformities at the distal tibia. [intechopen.com]

Joint abnormalities may lead to the development of hip deformity in which the thigh bone is angled toward the center of the body (coxa vara) and/or knee deformities, including bow legs (genu varum) and ‘knock knees’ (genu valgum). [rarediseases.org]

[…] complex II deficiency Severe intellectual disability-progressive spastic diplegia syndrome Methylmalonic acidemia with homocystinuria type cblD Tetrasomy 21 Rutherfurd syndrome Fine-Lubinsky syndrome Teeth noneruption of with maxillary hypoplasia and genu [checkrare.com]

Other features included muscle hypotonia in infancy, with delays in early motor development such as sitting and walking. Seizures were a prominent and early feature in 1 patient, but were infrequent in some patients and absent in others. [omim.org]

Affected children may also exhibit diminished muscle tone (hypotonia) and muscle weakness, which, along with the spinal malformations, can result in delays in affected children learning to walk. [rarediseases.org]

Affiliated tissues include bone and skin, and related phenotypes are short neck and nystagmus OMIM : 57 Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including [malacards.org]

neck of thighbone 0100864 Short neck Decreased length of neck 0000470 Small epiphyses Small end part of bone 0010585 Spondyloepimetaphyseal dysplasia 0002651 Synophrys Monobrow Unibrow [ more ] 0000664 Thick lower lip vermilion Increased volume of lower [rarediseases.info.nih.gov]

Acromegaly Alpha-mannosidosis type II Aspartylglycosaminuria Battaglia Neri syndrome Borjeson Syndrome Chromosome 6q deletion syndrome Coarse face - hypotonia - constipation Congenital hypothyroidism Dandy-Walker malformation (with mental retardation [liquisearch.com]

face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures syndrome Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus [se-atlas.de]

Craniofacial phenotype is represented by stellate iris, periorbital oedema, flattening of nasal pyramid, short nose with anteverted nostrils, long philtrum, macrostomy, thick lips, microdontia, multiple diastema, dental malocclusion and micrognathia. [intechopen.com]

The clinical picture is represented by the specific skeletal features: short rhizomelic limbs, relative macrocephaly, frontal bossing with mid‐face hypoplasia, trident hands and hyperlordosis. [intechopen.com]

Affiliated tissues include bone and skin, and related phenotypes are short neck and nystagmus OMIM : 57 Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including [malacards.org]

0003025 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Muscular hypotonia Low or weak muscle tone 0001252 Narrow iliac wings 0002868 Nystagmus [rarediseases.info.nih.gov]

ataxia-epilepsy-intellectual disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency [se-atlas.de]

ataxia, deafness, and narcolepsy Achondrogenesis type 2 Tangier disease Charcot-Marie-Tooth disease type 2F Niemann-Pick disease type B Macrocephaly mesodermal hamartoma spectrum PHAVER syndrome Hunter Rudd Hoffmann syndrome D-glycericacidemia Dystonia [checkrare.com]

Cardiomyopathy, hypertrophic, 19 613875 611414 Autosomal dominant CAMTA1 1p36.31-p36.23 Cerebellar ataxia, nonprogressive, with mental retardation 614756 611501 Autosomal dominant CAPN3 15q15.1 Muscular dystrophy, limb-girdle, type 2A 253600 114240 Autosomal [mnglabs.com]

Cerebellar ataxia and ectodermal dysplasia in brothers. Baraitser M, Reardon W, McShane A, Wilson J. J Med Genet. 1993 Jun;30(6):515-7. [williereardon.ie]