4852
(6.1%)

polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1

Urinary incontinence

Autosomal recessive inheritance

4852
(6.1%)

pontocerebellar hypoplasia type 3

Brachycephaly

Autosomal recessive inheritance

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.

4852
(6.1%)

hereditary spastic paraplegia 51

Wide mouth

Autosomal recessive inheritance

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.

4852
(6.1%)

short stature-brachydactyly-obesity-global developmental delay syndrome

High palate

Autosomal recessive inheritance

4852
(6.1%)

Kufor-Rakeb syndrome

Mask-like facies

Autosomal recessive inheritance

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

4852
(6.1%)

hereditary spastic paraplegia 46

Urinary incontinence

Autosomal recessive inheritance

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.

4852
(6.1%)

neuropathy, hereditary motor and sensory, type 6B

Narrow palate

Autosomal recessive inheritance

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

4852
(6.1%)

orofaciodigital syndrome type 6

Renal agenesis

Autosomal recessive inheritance

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.

4852
(6.1%)

spondyloperipheral dysplasia-short ulna syndrome

Malar flattening

Autosomal dominant inheritance

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.

4852
(6.1%)

congenital cataracts-facial dysmorphism-neuropathy syndrome

Hypogonadotropic hypogonadism

Autosomal recessive inheritance

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

4852
(6.1%)

progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

Microcephaly

Autosomal recessive inheritance

4852
(6.1%)

CK syndrome

High palate

X-linked recessive inheritance

4852
(6.1%)

hereditary spastic paraplegia 47

Wide mouth

Autosomal recessive inheritance

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.

4852
(6.1%)

Troyer syndrome

Hypertelorism

Autosomal recessive inheritance

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.

4852
(6.1%)

syndromic X-linked intellectual disability Snyder type

Cryptorchidism

X-linked recessive inheritance

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.

4852
(6.1%)

orofaciodigital syndrome type II

Median cleft lip

Autosomal recessive inheritance

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

4852
(6.1%)

metaphyseal acroscyphodysplasia

Malar flattening

Autosomal recessive inheritance

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.

4852
(6.1%)

intellectual disability-severe speech delay-mild dysmorphism syndrome

Open mouth

Autosomal dominant inheritance

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.

4852
(6.1%)

hypomyelinating leukodystrophy 10

Progressive microcephaly

Autosomal recessive inheritance

Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.

4852
(6.1%)

pontocerebellar hypoplasia type 2E

Progressive microcephaly

Autosomal recessive inheritance

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.

4852
(6.1%)

Charlevoix-Saguenay spastic ataxia

Urinary urgency

Autosomal recessive inheritance

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.

4852
(6.1%)

endocrine-cerebro-osteodysplasia syndrome

Cryptorchidism

Autosomal recessive inheritance

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

4852
(6.1%)

skin creases, congenital symmetric circumferential, 2

Cryptorchidism

Autosomal dominant inheritance

4852
(6.1%)

adenylosuccinate lyase deficiency

Wide mouth

Autosomal recessive inheritance

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

4852
(6.1%)

cerebrooculofacioskeletal syndrome 4

Microcephaly

Autosomal recessive inheritance

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.

4852
(6.1%)

atelosteogenesis type I

Cryptorchidism

Autosomal dominant inheritance Sporadic

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.

4852
(6.1%)

holoprosencephaly 9

Cryptorchidism

Autosomal dominant inheritance Sporadic

Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.

4852
(6.1%)

Marshall syndrome

Cleft palate

Autosomal dominant inheritance

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.

4852
(6.1%)

X-linked spondyloepimetaphyseal dysplasia

Hypoplasia of the maxilla

X-linked recessive inheritance

X-linked form of spondyloepimetaphyseal dysplasia.

4852
(6.1%)

cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Long philtrum

Autosomal recessive inheritance

4852
(6.1%)

pseudoachondroplasia

Sensory neuropathy

Autosomal dominant inheritance

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.

4852
(6.1%)

Joubert syndrome 2

Hypoplastic male external genitalia

Autosomal recessive inheritance Heterogeneous

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.

4852
(6.1%)

orofaciodigital syndrome type 14

Micropenis

Autosomal recessive inheritance

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.

4852
(6.1%)

cleidocranial dysplasia

Cleft palate

Autosomal dominant inheritance

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.

4852
(6.1%)

Dyggve-Melchior-Clausen disease

Microcephaly

Autosomal recessive inheritance

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

4852
(6.1%)

Desbuquois dysplasia 1

Narrow mouth

Autosomal recessive inheritance

Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.