Global developmental delay, and Retinal dystrophy

Diseases related with Global developmental delay and Retinal dystrophy

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

Top matches:

BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008).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
  • Obesity
  • Rod-cone dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about BARDET-BIEDL SYNDROME 14; BBS14

BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014).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
  • Obesity
  • Rod-cone dystrophy
  • Polydactyly


SOURCES: MESH OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 13; BBS13

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7B; PBD7B

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 28; JBTS28

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Myopia
  • Blindness
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 51; RP51

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38

Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015).For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 33; JBTS33

ACHROMATOPSIA 3; ACHM3 Is also known as total colorblindness with myopia|rod monochromatism 1, formerly|achm1, formerly|rod monochromacy 1, formerly|rmch1, formerly|pingelapese blindness|achromatopsia with myopia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Cataract
  • Myopia


SOURCES: OMIM MENDELIAN

More info about ACHROMATOPSIA 3; ACHM3

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

RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME Is also known as retinal dystrophy-juvenile cataract-short stature syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Abnormal facial shape
  • Cataract
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Retinal dystrophy

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Retinopathy Ataxia Blindness Obesity

Rare Symptoms - Less than 30% cases

Cataract Molar tooth sign on MRI Photophobia Short stature Myopia Cognitive impairment High myopia Nystagmus Visual impairment Unilateral renal hypoplasia Horizontal pendular nystagmus Small hand Severe vision loss Dyschromatopsia Hypoplasia of the fovea Pendular nystagmus Tapetoretinal degeneration Achromatopsia Monochromacy Brachydactyly Abnormal facial shape Postaxial polydactyly Pigmentary retinopathy Renal hypoplasia Upslanted palpebral fissure Cone dysfunction syndrome Tricuspid regurgitation External genital hypoplasia Widely spaced teeth Malar flattening Dental malocclusion Encephalopathy Renal cyst Attenuation of retinal blood vessels Hearing impairment Sensorineural hearing impairment Neonatal hypotonia Decreased liver function Abnormality of eye movement Apraxia Oculomotor apraxia Reduced visual acuity Pallor Macular degeneration Bone spicule pigmentation of the retina Abnormality of the kidney Abnormal light- and dark-adapted electroretinogram Seizures Hypertonia Dystonia Epileptic encephalopathy Intellectual disability, profound Hypsarrhythmia Status epilepticus Central hypotonia Apnea Mottled pigmentation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Poor speech, related diseases and genetic alterations Epicanthus and Clinodactyly of the 5th finger, related diseases and genetic alterations Immunodeficiency and Cerebral cortical atrophy, related diseases and genetic alterations Peripheral neuropathy and Hypotension, related diseases and genetic alterations Cleft palate and Anxiety, related diseases and genetic alterations Hypertelorism and Pectus excavatum, related diseases and genetic alterations