Motor delay, and Frontal bossing

Diseases related with Motor delay and Frontal bossing

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS

Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Other less relevant matches:

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia (see this term) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.

CHILDHOOD-ONSET HYPOPHOSPHATASIA Is also known as childhood-onset phosphoethanolaminuria|childhood-onset rathburn disease

Related symptoms:

  • Seizures
  • Short stature
  • Pain
  • Motor delay
  • Frontal bossing


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET HYPOPHOSPHATASIA

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

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Top 5 symptoms//phenotypes associated to Motor delay and Frontal bossing

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Frontal bossing. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Deeply set eye Triangular face Ventriculomegaly Cryptorchidism Abnormal facial shape Short stature Proptosis Delayed speech and language development Low-set ears Retrognathia

Rare Symptoms - Less than 30% cases

Ataxia Neurological speech impairment Microtia Strabismus Molar tooth sign on MRI Cognitive impairment Tremor Hyperactivity Long face Feeding difficulties in infancy Infra-orbital crease Focal-onset seizure Enlarged cisterna magna Prominent forehead Hypertelorism Downslanted palpebral fissures Autism Pectus excavatum Craniosynostosis Cerebellar vermis hypoplasia Poor speech Absent speech Failure to thrive Gait ataxia Epicanthus Delayed gross motor development Relative macrocephaly Small hand Ambiguous genitalia Decreased body weight Finger clinodactyly Melanocytic nevus Pterygium Unilateral cryptorchidism Penoscrotal hypospadias Poor eye contact Growth delay Wide nasal bridge Recurrent infections Microphallus Macrotia Delayed skeletal maturation Lymphedema Hip dislocation Genu valgum Brain atrophy Osteoarthritis Retrocerebellar cyst Abnormality of epiphysis morphology Joint dislocation Rod-cone dystrophy Epiphyseal dysplasia Multiple epiphyseal dysplasia Enlarged joints Flexion contracture Hypospadias Patent ductus arteriosus Abnormality of the philtrum EEG abnormality Polydactyly Dysmetria Mandibular prognathia Thin upper lip vermilion Micropenis Cerebral cortical atrophy Cerebellar hypoplasia Dilatation Neonatal hypotonia Intellectual disability, moderate Attention deficit hyperactivity disorder Intellectual disability, severe Spasticity Muscular hypotonia Short philtrum Pectus carinatum Nystagmus Long nose Intellectual disability, profound Polymicrogyria Hirsutism External genital hypoplasia Postaxial polydactyly Thick vermilion border Focal impaired awareness seizure Prominent supraorbital ridges Abnormal cerebellum morphology Encephalocele Scrotal hypoplasia Deep philtrum Intention tremor Hypotelorism Prominent nose Finger syndactyly Carious teeth Polyhydramnios Gastroesophageal reflux Posteriorly rotated ears Autistic behavior Abnormality of the foot Facial asymmetry Febrile seizures Tall stature Hyperlordosis Long toe Broad forehead Generalized myoclonic seizures Delayed myelination Postnatal macrocephaly High palate Hydrocephalus Kyphosis Immunodeficiency Acute hepatic failure Osteopenia Elevated hepatic transaminase Cerebellar atrophy Inability to walk Microcephaly Sensorineural hearing impairment Anemia Hepatomegaly Abnormality of the liver Macrocytic anemia Lactic acidosis Hepatic failure Hepatic steatosis Full cheeks Abnormality of the coagulation cascade Long fingers Microcytic anemia Midface retrusion Postnatal growth retardation Agenesis of corpus callosum Skin dimple over apex of long bone angulation Waddling gait Hypoplasia of dental enamel Bowing of the legs Premature loss of primary teeth Rachitic rosary Low alkaline phosphatase Elevated plasma pyrophosphate Arthralgia Elevated urine pyrophosphate Phosphoethanolaminuria Short neck Malar flattening Obesity Clinodactyly Inguinal hernia Dolichocephaly Osteoporosis Platyspondyly Thin ribs Recurrent fractures Oligohydramnios Blue sclerae Wormian bones Microretrognathia Reduced bone mineral density High pitched voice Turricephaly Myopathy Coronal craniosynostosis Decreased skull ossification Lambdoidal craniosynostosis Narrow iliac wings Fractures of the long bones Pain Abnormality of the skeletal system Disorganization of the anterior cerebellar vermis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Glomerulonephritis, related diseases and genetic alterations Macrocephaly and Protruding ear, related diseases and genetic alterations High palate and Hypospadias, related diseases and genetic alterations Strabismus and Postaxial hand polydactyly, related diseases and genetic alterations Hypertension and Photophobia, related diseases and genetic alterations Anemia and Hypertension, related diseases and genetic alterations