4852
(6.1%)

polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
----
多嚢胞性脂肪膜性骨異形成-硬化性白質脳症1

遺尿

常染色体劣性遺伝

4852
(6.1%)

pontocerebellar hypoplasia type 3
----
橋小脳低形成3型

短頭

常染色体劣性遺伝

Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.  >> 翻訳 (Google)

4852
(6.1%)

hereditary spastic paraplegia 51
----
痙性対麻痺51, 常染色体劣性

幅広い口

常染色体劣性遺伝

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.  >> 翻訳 (Google)

4852
(6.1%)

short stature-brachydactyly-obesity-global developmental delay syndrome
----
低身長-短指症-知的発達障害-けいれん

高口蓋

常染色体劣性遺伝

4852
(6.1%)

Kufor-Rakeb syndrome
----
Kufor-Rakeb 症候群

仮面様顔貌

常染色体劣性遺伝

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.  >> 翻訳 (Google)

4852
(6.1%)

hereditary spastic paraplegia 46
----
痙性対不全麻痺46, 常染色体劣性

遺尿

常染色体劣性遺伝

A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.  >> 翻訳 (Google)

4852
(6.1%)

neuropathy, hereditary motor and sensory, type 6B
----
ニューロパチー, 遺伝性運動感覚, VI 型

狭い口蓋

常染色体劣性遺伝

Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.  >> 翻訳 (Google)

4852
(6.1%)

orofaciodigital syndrome type 6
----
口腔顔指症候群 VI (OFD6)

腎無発生

常染色体劣性遺伝

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.  >> 翻訳 (Google)

4852
(6.1%)

spondyloperipheral dysplasia-short ulna syndrome
----
脊椎末梢性異形成

平坦な頬

常染色体優性遺伝

An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia.  >> 翻訳 (Google)

4852
(6.1%)

congenital cataracts-facial dysmorphism-neuropathy syndrome
----
先天性白内障-顔貌異常-ニューロパチー (CCFDN)

低ゴナドトロピン性性腺機能低下症

常染色体劣性遺伝

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.  >> 翻訳 (Google)

4852
(6.1%)

progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
----
脊椎骨端骨幹端異形成, Faden-Alkuraya 型

小頭

常染色体劣性遺伝

4852
(6.1%)

CK syndrome
----
CK 症候群

高口蓋

X連鎖劣性遺伝

4852
(6.1%)

hereditary spastic paraplegia 47
----
痙性四肢対麻痺47, 常染色体劣性

幅広い口

常染色体劣性遺伝

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.  >> 翻訳 (Google)

4852
(6.1%)

Troyer syndrome
----
痙性対麻痺20, 常染色体劣性

両眼隔離

常染色体劣性遺伝

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.  >> 翻訳 (Google)

4852
(6.1%)

syndromic X-linked intellectual disability Snyder type
----
精神遅滞, X連鎖性, 症候群性, Snyder-Robinson 型

停留精巣

X連鎖劣性遺伝

Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.  >> 翻訳 (Google)

4852
(6.1%)

orofaciodigital syndrome type II
----
Mohr 症候群

正中口唇裂

常染色体劣性遺伝

Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.  >> 翻訳 (Google)

4852
(6.1%)

metaphyseal acroscyphodysplasia
----
骨幹端先端杯状異形成

平坦な頬

常染色体劣性遺伝

Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.  >> 翻訳 (Google)

4852
(6.1%)

intellectual disability-severe speech delay-mild dysmorphism syndrome
----
精神遅滞-言語障害-自閉症状

開口

常染色体優性遺伝

Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.  >> 翻訳 (Google)

4852
(6.1%)

hypomyelinating leukodystrophy 10
----
白質ジストロフィー, ミエリン形成不全性, 10

進行性小頭

常染色体劣性遺伝

Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.  >> 翻訳 (Google)

4852
(6.1%)

pontocerebellar hypoplasia type 2E
----
橋小脳低形成2E型

進行性小頭

常染色体劣性遺伝

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.  >> 翻訳 (Google)

4852
(6.1%)

Charlevoix-Saguenay spastic ataxia
----
痙性運動失調 Charlevoix-Saguenay 型

尿意切迫

常染色体劣性遺伝

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.  >> 翻訳 (Google)

4852
(6.1%)

endocrine-cerebro-osteodysplasia syndrome
----
内分泌-大脳骨異形成 (ECO)

停留精巣

常染色体劣性遺伝

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.  >> 翻訳 (Google)

4852
(6.1%)

skin creases, congenital symmetric circumferential, 2
----
皮膚の溝, 先天性対称性円周性, 2

停留精巣

常染色体優性遺伝

4852
(6.1%)

adenylosuccinate lyase deficiency
----
Adenylosuccinase欠損症

幅広い口

常染色体劣性遺伝

Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.  >> 翻訳 (Google)

4852
(6.1%)

cerebrooculofacioskeletal syndrome 4
----
脳眼顔骨格症候群4 (COFS4)

小頭

常染色体劣性遺伝

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.  >> 翻訳 (Google)

4852
(6.1%)

atelosteogenesis type I
----
アテロオステオジェネシス 1 型 (AO I)

停留精巣

常染色体優性遺伝 孤発性

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.  >> 翻訳 (Google)

4852
(6.1%)

holoprosencephaly 9
----
全前脳症9

停留精巣

常染色体優性遺伝 孤発性

Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.  >> 翻訳 (Google)

4852
(6.1%)

Marshall syndrome
----
Marshall 症候群

口蓋裂

常染色体優性遺伝

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.  >> 翻訳 (Google)

4852
(6.1%)

X-linked spondyloepimetaphyseal dysplasia
----
脊椎骨端骨幹端異形成, X連鎖性

上顎低形成

X連鎖劣性遺伝

X-linked form of spondyloepimetaphyseal dysplasia.  >> 翻訳 (Google)

4852
(6.1%)

cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
----
白内障-成長ホルモン欠乏症-感覚ニューロパチー-感音難聴-骨格異形成

長い人中

常染色体劣性遺伝

4852
(6.1%)

pseudoachondroplasia
----
偽軟骨無形成

感覚ニューロパチー

常染色体優性遺伝

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.  >> 翻訳 (Google)

4852
(6.1%)

Joubert syndrome 2
----
Joubert 症候群 2 (JBTS2)

男性外性器低形成

常染色体劣性遺伝 Heterogeneous

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.  >> 翻訳 (Google)

4852
(6.1%)

orofaciodigital syndrome type 14
----
口腔顔面指趾症候群XIV

小陰茎

常染色体劣性遺伝

Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.  >> 翻訳 (Google)

4852
(6.1%)

cleidocranial dysplasia
----
鎖骨頭蓋骨異形成

口蓋裂

常染色体優性遺伝

Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.  >> 翻訳 (Google)

4852
(6.1%)

Dyggve-Melchior-Clausen disease
----
Dyggve-Melchior-Clausen 病

小頭

常染色体劣性遺伝

Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.  >> 翻訳 (Google)

4852
(6.1%)

Desbuquois dysplasia 1
----
Desbuquois 異形成1

狭い口

常染色体劣性遺伝

Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.  >> 翻訳 (Google)