Global developmental delay, and Polydactyly

Diseases related with Global developmental delay and Polydactyly

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

Top matches:

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

Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign.' Compared to other forms of Joubert syndrome, the phenotype is relatively mild, and other organ systems are generally not affected (summary by Bachmann-Gagescu et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Polydactyly
  • Apnea
  • Abnormality of the eye
  • Coloboma


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 23; JBTS23

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

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 17; JBTS17

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 51; RP51

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

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

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

Top 5 symptoms//phenotypes associated to Global developmental delay and Polydactyly

Symptoms // Phenotype % cases
Postaxial polydactyly Common - Between 50% and 80% cases
Molar tooth sign on MRI Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Apraxia Uncommon - Between 30% and 50% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Cognitive impairment Syndactyly Oculomotor apraxia

Rare Symptoms - Less than 30% cases

Retinopathy Blindness Cerebellar vermis hypoplasia Abnormal facial shape Nyctalopia Retinal dystrophy Renal cyst Postaxial hand polydactyly Renal hypoplasia Polymicrogyria Abnormality of eye movement Absent speech Obesity Apnea Macrocephaly Abnormality of the eye Coloboma Tricuspid regurgitation External genital hypoplasia Unilateral renal hypoplasia Respiratory insufficiency Aggressive behavior Abnormal retinal morphology Self-mutilation Growth delay Intrauterine growth retardation Large for gestational age Nystagmus Microphthalmia Foot polydactyly Postaxial foot polydactyly Tall stature Abnormal cerebellum morphology Intellectual disability, mild Frontal bossing Dysarthria Depressed nasal bridge Undetectable electroretinogram Seizures Hypertelorism Retinal dysplasia Pallor Pigmentary retinopathy Thick corpus callosum Heterotopia Tachypnea Breathing dysregulation Cerebellar dysplasia Dysplastic corpus callosum Ventriculomegaly Hydrocephalus Prominent forehead Megalencephaly Perisylvian polymicrogyria Frontoparietal polymicrogyria Hyperventilation Brachydactyly Myelomeningocele Intermittent hyperventilation Myopia Reduced visual acuity Photophobia High myopia Macular degeneration Attenuation of retinal blood vessels Bone spicule pigmentation of the retina Abnormal light- and dark-adapted electroretinogram Generalized hypotonia Abnormality of the kidney Elongated superior cerebellar peduncle


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