Global developmental delay, and Hip dysplasia

Diseases related with Global developmental delay and Hip dysplasia

In the following list you will find some of the most common rare diseases related to Global developmental delay and Hip dysplasia that can help you solving undiagnosed cases.

Top matches:

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).

SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME Is also known as spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|asct1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE

Other less relevant matches:

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency|dph deficiency|dihydropyrimidinuria|dpys deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINURIA

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

High match STEEL SYNDROME

Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about STEEL SYNDROME

High match SECKEL SYNDROME

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

Top 5 symptoms//phenotypes associated to Global developmental delay and Hip dysplasia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Hip dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Delayed speech and language development Anteverted nares Clinodactyly Hypertelorism Scoliosis Wide nasal bridge Short stature Hypoplasia of the corpus callosum Absent speech Talipes equinovarus

Rare Symptoms - Less than 30% cases

Poor speech Growth delay Intrauterine growth retardation Clinodactyly of the 5th finger Delayed skeletal maturation Nystagmus Metabolic acidosis Cognitive impairment Gait ataxia Visual impairment Dystonia Optic atrophy Feeding difficulties Unsteady gait Arthrogryposis multiplex congenita Prominent forehead Tapered finger Hip dislocation Autism Hyperreflexia Hyperactivity Stereotypy Intellectual disability, severe Delayed myelination Cerebral atrophy Flexion contracture Abnormality of the cerebral white matter Autistic behavior Inability to walk Finger syndactyly Bilateral talipes equinovarus Pes planus Hyperlordosis Mild short stature Broad forehead Genu valgum Congenital hip dislocation Talipes Thin vermilion border Bilateral sensorineural hearing impairment Lumbar hyperlordosis Coxa vara Finger clinodactyly Rhizomelia Syndactyly Midface retrusion Lissencephaly Low-set ears Ventricular septal defect Jaundice Elevated hepatic transaminase Ichthyosis Nephropathy Sloping forehead Nephrocalcinosis Renal tubular acidosis Dislocated radial head Right ventricular hypertrophy Conjugated hyperbilirubinemia Cholestatic liver disease Nephrogenic diabetes insipidus Giant cell hepatitis Talipes calcaneovalgus Hearing impairment Sensorineural hearing impairment Pain Limited elbow extension Synostosis of carpal bones Thoracic scoliosis Hypermetropia Strabismus Abnormality of the skeletal system Ventriculomegaly Pes cavus Upslanted palpebral fissure Difficulty walking Deeply set eye Abnormality of the pinna Single transverse palmar crease Abnormality of earlobe Cerebellar vermis hypoplasia Drooling Optic nerve hypoplasia Overlapping toe Poor eye contact Facial hypotonia Mild microcephaly Bruxism Absent earlobe Mild global developmental delay Hypoplasia of the odontoid process Craniosynostosis Reduced dihydropyrimidine dehydrogenase activity Lower limb asymmetry Acetabular dysplasia Shallow acetabular fossae Dislocation of the femoral head Micrognathia Downslanted palpebral fissures Glaucoma Joint hyperflexibility Prematurely aged appearance Convex nasal ridge Sparse scalp hair Narrow face Abnormality of dental enamel Sandal gap Reduced number of teeth Cachexia Cone-shaped epiphysis Failure to thrive Infantile spasms Extrapyramidal dyskinesia Spastic tetraplegia Ataxia Muscular hypotonia Decreased light- and dark-adapted electroretinogram amplitude Progressive microcephaly Dysarthria Hypsarrhythmia Myopia Tremor Abnormality of the carpal bones Febrile seizures Cerebellar atrophy Cerebellar hypoplasia Osteoporosis Generalized myoclonic seizures Osteopenia EEG abnormality Tetraplegia Lumbar scoliosis Madelung deformity Abnormal cerebellum morphology Severe short stature Microretrognathia Hammertoe Knee dislocation Atypical absence seizures Camptodactyly of finger Intellectual disability, moderate Obesity Intellectual disability, mild Hypothyroidism Central hypothyroidism Postnatal growth retardation Microtia Severe global developmental delay Prominent nose Amenorrhea Hypotelorism Primary amenorrhea Hypoplasia of the uterus Dysmetria Generalized-onset seizure Intractable diarrhea Short distal phalanx of finger Diarrhea Acidosis Feeding difficulties in infancy Abnormal pyramidal sign Lethargy Anal atresia Cirrhosis Dyskinesia Impulsivity Brain atrophy Cholestasis Short phalanx of finger Plagiocephaly Absence seizures Excessive daytime somnolence Reduced consciousness/confusion Morphological abnormality of the pyramidal tract Babinski sign Short chin Narrow forehead Hernia Apraxia Status epilepticus Cerebral visual impairment Infantile muscular hypotonia Brisk reflexes Muscle weakness Behavioral abnormality Irritability Constipation Wide nose Narrow mouth High forehead Gastroesophageal reflux Umbilical hernia Thin upper lip vermilion Anxiety Attention deficit hyperactivity disorder Prominent nasal bridge Happy demeanor


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