Global developmental delay, and Postaxial polydactyly

Diseases related with Global developmental delay and Postaxial polydactyly

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

Top matches:

This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by Mirzaa et al., 2014).For a discussion of genetic heterogeneity of MPPH, see MPPH1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Macrocephaly
  • Ventriculomegaly
  • Hydrocephalus
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Cognitive impairment
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 17; JBTS17

BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise (Young et al., 1998; Ghadami et al., 2000).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Brachydactyly
  • Blindness
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 3; BBS3

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Respiratory insufficiency
  • Syndactyly
  • Absent speech
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 20; JBTS20

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Abnormal facial shape
  • Intrauterine growth retardation
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 22; JBTS22

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cognitive impairment
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 2; BBS2

Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 24; JBTS24

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 30; JBTS30

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Postaxial polydactyly

Symptoms // Phenotype % cases
Polydactyly Very Common - Between 80% and 100% cases
Molar tooth sign on MRI Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Postaxial hand polydactyly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Polymicrogyria Absent speech Abnormality of eye movement Oculomotor apraxia Apraxia Ataxia Renal hypoplasia Syndactyly Abnormality of the eye

Rare Symptoms - Less than 30% cases

Macrocephaly Retinal dystrophy Retinopathy External genital hypoplasia Obesity Unilateral renal hypoplasia Depressed nasal bridge Nystagmus Growth delay Abnormal facial shape Rod-cone dystrophy Hypopituitarism Hypogonadism Cerebellar vermis hypoplasia Cognitive impairment Encephalocele Optic nerve hypoplasia Hypermetropia Talipes Tachypnea Dysmetria Heterotopia Apnea Pachygyria Delayed speech and language development Mutism Dandy-Walker malformation Bifid uvula Short stature Agenesis of cerebellar vermis Ptosis Abnormality of digit Cleft upper lip Cleft palate Holoprosencephaly Bilateral postaxial polydactyly Anterior pituitary hypoplasia Microphallus Adrenocorticotropic hormone deficiency Panhypopituitarism Poor appetite High pitched voice Diabetes insipidus Bilateral cryptorchidism Depressed nasal ridge Pain Hypotelorism Growth hormone deficiency Oral cleft Talipes equinovarus Cleft lip Micropenis Abdominal pain Delayed skeletal maturation Midface retrusion Cryptorchidism Cerebellar hypoplasia Intellectual disability, mild Gait disturbance Brachydactyly Abnormal retinal morphology Renal cyst Aggressive behavior Respiratory insufficiency Tricuspid regurgitation Pigmentary retinopathy Nyctalopia Blindness Intermittent hyperventilation Intrauterine growth retardation Myelomeningocele Hyperventilation Thick corpus callosum Frontoparietal polymicrogyria Perisylvian polymicrogyria Megalencephaly Prominent forehead Hydrocephalus Ventriculomegaly Self-mutilation Microphthalmia Hyperreflexia Elongated superior cerebellar peduncle Spasticity Generalized hypotonia Secundum atrial septal defect Bicuspid aortic valve Retinal degeneration Dilated cardiomyopathy Atrial septal defect Cardiomyopathy Large for gestational age Coloboma Tall stature Abnormal cerebellum morphology Frontal bossing Dysarthria Hypertelorism Undetectable electroretinogram Retinal dysplasia Postaxial foot polydactyly Foot polydactyly Ectopic posterior pituitary


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