Motor delay, and Short neck

Diseases related with Motor delay and Short neck

In the following list you will find some of the most common rare diseases related to Motor delay and Short neck that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

Other less relevant matches:

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

High match PERRAULT SYNDROME

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Motor delay and Short neck

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Motor delay and Short neck. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Short stature High palate Abnormal facial shape Seizures Delayed speech and language development Wide nasal bridge Scoliosis Epicanthus Ptosis Malar flattening Frontal bossing Failure to thrive Pectus excavatum Growth delay Hypoplasia of the corpus callosum Obesity Cerebellar atrophy

Rare Symptoms - Less than 30% cases

Thoracolumbar scoliosis Midface retrusion Short metacarpal Autism Short palm Hyporeflexia Short palpebral fissure Long philtrum Osteoporosis Short nose Downslanted palpebral fissures Spasticity Delayed puberty Wide nose Amenorrhea Primary amenorrhea Depressed nasal bridge Strabismus Nystagmus Microtia Hearing impairment Inguinal hernia Narrow mouth Osteopenia Micrognathia Cryptorchidism Bilateral ptosis Flexion contracture Intrauterine growth retardation Feeding difficulties Hyperactivity Clinodactyly Cardiomyopathy Broad neck Decreased fetal movement Respiratory tract infection Ureterocele Thin upper lip vermilion Inability to walk Generalized muscle weakness Myopathy Abnormality of eye movement Muscle weakness Overfolded helix Hypertension Arthrogryposis multiplex congenita Fasciculations Falls Poor head control Wide intermamillary distance Abnormality of the pinna Blepharophimosis Carious teeth Pes planus Flat face Upslanted palpebral fissure Tapered finger Microcornea Microdontia Adducted thumb Posteriorly rotated ears Scrotal hypoplasia Hypospadias Microphthalmia Cleft palate Fractures of the long bones Low-set, posteriorly rotated ears Oral-pharyngeal dysphagia Weak cry Acetabular dysplasia Bulbous nose Rocker bottom foot Delayed skeletal maturation Severe short stature Skeletal dysplasia Hyperlordosis Autistic behavior Craniosynostosis Platyspondyly Thick vermilion border Increased body weight Coxa vara Tented upper lip vermilion Overlapping toe Infra-orbital crease Short femoral neck Femoral bowing Slender long bone Delayed epiphyseal ossification Beaking of vertebral bodies Spondyloepimetaphyseal dysplasia Small epiphyses Narrow pelvis bone Short fourth metatarsal Proximal femoral epiphysiolysis Skull asymmetry Thoracic platyspondyly Frontal hirsutism Pseudohypoparathyroidism Everted lower lip vermilion Brachydactyly Webbed neck Underdeveloped nasal alae Low posterior hairline Frequent falls Mild short stature Centrally nucleated skeletal muscle fibers Nemaline bodies Fused cervical vertebrae Recurrent respiratory infections Cervical C2/C3 vertebral fusion Limitation of neck motion Abnormality of the skeletal system Underdeveloped supraorbital ridges Anteverted nares Retrognathia Deeply set eye Severe global developmental delay Astigmatism Thin vermilion border Short foot Broad nasal tip Delayed myelination Laryngomalacia Short metatarsal Delayed ability to walk Respiratory failure Hyperkinesis Cerebral atrophy Joint dislocation Agenesis of corpus callosum Polyhydramnios Pectus carinatum Finger syndactyly Hip dislocation Genu valgum Brain atrophy Osteoarthritis Abnormality of epiphysis morphology Lymphedema Epiphyseal dysplasia Horizontal eyebrow Molar tooth sign on MRI Multiple epiphyseal dysplasia Enlarged joints Hypoglycemia Joint laxity Insulin resistance Absence seizures Ketoacidosis Maternal diabetes Hyperinsulinemic hypoglycemia Dorsocervical fat pad Macrocephaly Abnormality of the cerebellar vermis Muscular hypotonia Downturned corners of mouth Intellectual disability, severe Brachycephaly Neonatal hypotonia Cleft lip Developmental regression Short philtrum Abnormality of the cerebral white matter Synophrys Smooth philtrum Cleft upper lip Round face Unilateral cleft lip Febrile seizures Hypotelorism Postnatal microcephaly Progressive microcephaly Low anterior hairline Severe muscular hypotonia Truncal obesity Slender finger Overweight Mild microcephaly Bruxism Delayed thelarche Ventriculomegaly Hypertonia Secondary amenorrhea Mental deterioration Ophthalmoplegia Infertility Dysmetria Peripheral axonal neuropathy Sensory neuropathy Polyneuropathy Sensorimotor neuropathy Hammertoe Spastic diplegia Gonadal dysgenesis Gait ataxia Severe sensorineural hearing impairment Increased circulating gonadotropin level Retinal atrophy Amelogenesis imperfecta Decreased serum testosterone level Titubation Progressive peripheral neuropathy Limited extraocular movements Internuclear ophthalmoplegia Hyperreflexia Respiratory insufficiency Abnormality of the nervous system Rod-cone dystrophy Behavioral abnormality Congenital hip dislocation Hernia Clinodactyly of the 5th finger Prominent forehead Micropenis High forehead Attention deficit hyperactivity disorder Overgrowth Hypoplasia of penis Tall stature Pointed chin Lissencephaly Pes cavus Large for gestational age Disproportionate tall stature Ataxia Sensorineural hearing impairment Cognitive impairment Peripheral neuropathy Dysarthria Talipes equinovarus Intellectual disability, mild Areflexia Cerebellar hypoplasia Distal femoral bowing


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