Global developmental delay, and Renal agenesis

Diseases related with Global developmental delay and Renal agenesis

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

Top matches:

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012).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
  • Short stature
  • Hearing impairment
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 16; BBS16

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS Is also known as recessive x-linked ichthyosis with extracutaneous manifestations|syndromic rxli

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS

Other less relevant matches:

Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.

DISTAL 16P11.2 MICRODELETION SYNDROME Is also known as distal monosomy 16p11.2|distal del(16)(p11.2)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL 16P11.2 MICRODELETION SYNDROME

Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph|premature chromosome condensation with microcephaly and mental retardation|pcc syndrome|true microcephaly|premature chromosome condensation syndrome|microcephalia vera|microcephaly vera

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

Top 5 symptoms//phenotypes associated to Global developmental delay and Renal agenesis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Unilateral renal agenesis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Upslanted palpebral fissure Abnormal facial shape Generalized hypotonia Hypogonadism Hypertelorism Autism

Rare Symptoms - Less than 30% cases

Hernia Broad forehead Sloping forehead Agenesis of corpus callosum Cryptorchidism Ventriculomegaly Attention deficit hyperactivity disorder Autistic behavior Hyperactivity Corneal opacity Intrauterine growth retardation Lissencephaly Hyperreflexia Delayed speech and language development Talipes equinovarus Spontaneous abortion Vesicoureteral reflux Rod-cone dystrophy Mild microcephaly Triangular face High forehead Retrognathia Hearing impairment Intellectual disability, moderate Atrial septal defect Highly arched eyebrow Thin upper lip vermilion Renal insufficiency Myopia Obesity Left-to-right shunt Ventricular septal defect Endometriosis Muscular ventricular septal defect Thin lower lip vermilion Abnormality of the dentition Scoliosis Velopharyngeal insufficiency Intellectual disability, mild Strabismus Perimembranous ventricular septal defect Patent ductus arteriosus High anterior hairline Horseshoe kidney Carious teeth Anal atresia Dental malocclusion Muscular hypotonia Recurrent urinary tract infections Pointed chin Premature ovarian insufficiency Low hanging columella Blepharophimosis Overlapping toe Long nose Camptodactyly Deeply set eye Abnormal heart morphology Abnormal cardiac septum morphology Short palpebral fissure Postnatal growth retardation Cataract Delayed myelination Visual impairment Hypertension Hypoplasia of the corpus callosum Short nose Long philtrum Microphthalmia Clinodactyly Posteriorly rotated ears Telecanthus Wide intermamillary distance Dermal translucency Tetralogy of Fallot Optic disc pallor Congenital diaphragmatic hernia Ventricular hypertrophy Pulmonary arterial hypertension Short chin Sandal gap Erythroderma Aplasia cutis congenita Small foramen magnum Calcaneovalgus deformity Low-set ears Congenital cataract Feeding difficulties Macrocephaly Frontal bossing Inguinal hernia Prominent forehead Osteopenia Cleft palate Protruding ear Hip dislocation Oligohydramnios Premature skin wrinkling Thin skin Wormian bones Aortic regurgitation Cutis laxa Adducted thumb Brisk reflexes Delayed cranial suture closure Reduced subcutaneous adipose tissue Spinal canal stenosis Epicanthus Limb hypertonia Increased rate of premature chromosome condensation Ichthyosis Renal cyst Asthma Recurrent otitis media Renal dysplasia Tricuspid regurgitation External genital hypoplasia Bronchiolitis Hyperkeratosis Hypohidrosis Stage 5 chronic kidney disease Dysphasia Acute leukemia Abnormality of the abdominal wall Abdominal wall defect Abnormality of the stomach Testicular seminoma Kyphosis Headache Hepatic steatosis Retinal degeneration Narrow mouth Nephrocalcinosis Depressed nasal bridge Downslanted palpebral fissures Absent speech Anxiety Smooth philtrum Thin vermilion border Focal-onset seizure Generalized-onset seizure Obsessive-compulsive behavior Abnormality of the liver Hyperparathyroidism Obsessive-compulsive trait Cognitive impairment Respiratory distress Recurrent respiratory infections Polydactyly Conductive hearing impairment Respiratory tract infection Constipation Neonatal hypotonia Small cerebral cortex Craniosynostosis Bulbous nose Thick vermilion border Hypoplasia of the brainstem Cortical gyral simplification Decreased head circumference Micrognathia Ptosis Intellectual disability, severe Tetraplegia Arthrogryposis multiplex congenita Spastic tetraplegia Heterotopia Pachygyria Hypergonadotropic hypogonadism Chromosome breakage Abnormal cortical bone morphology Bird-like facies Hypoplasia of the frontal lobes Poor speech Muscular hypotonia of the trunk Proteinuria Hyperuricemia Abnormality of the kidney Prominent nasal bridge Arachnodactyly Retinal dystrophy Migraine Aganglionic megacolon Low anterior hairline Chronic kidney disease Chronic constipation Macrotia Oval face Moderate receptive language delay Failure to thrive Spasticity Flexion contracture Wide nasal bridge Hypertonia Cerebellar hypoplasia Polyhydramnios Ureteral duplication


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