Delayed speech and language development, and Renal cyst

Diseases related with Delayed speech and language development and Renal cyst

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Renal cyst that can help you solving undiagnosed cases.


Top matches:

Low match NEPHRONOPHTHISIS 20; NPHP20

Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Rod-cone dystrophy


SOURCES: OMIM DOID MONDO UMLS

More info about NEPHRONOPHTHISIS 20; NPHP20

Low match JOUBERT SYNDROME 20; JBTS20

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Respiratory insufficiency
  • Syndactyly
  • Congenital onset


SOURCES: DOID OMIM UMLS MONDO

More info about JOUBERT SYNDROME 20; JBTS20

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia


SOURCES: MONDO UMLS OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

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Low match RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA

RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia


SOURCES: MONDO MESH OMIM ORPHANET UMLS

More info about RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA

Low match JOUBERT SYNDROME 14; JBTS14

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Hypertelorism


SOURCES: DOID UMLS OMIM MONDO

More info about JOUBERT SYNDROME 14; JBTS14

Low match CHROMOSOME 17q12 DELETION SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

CHROMOSOME 17q12 DELETION SYNDROME Is also known as ;del(17)(q12); monosomy 17q12

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID ORPHANET MONDO GARD OMIM

More info about CHROMOSOME 17q12 DELETION SYNDROME

Low match PEROXISOME BIOGENESIS DISORDER 1B; PBD1B

Peroxisome biogenesis disorder-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. Most affected children have hypotonia, but unlike Zellweger syndrome (see PBD1A, {214100}) there is a degree of psychomotor development, and some patients achieve head control, sit unsupported, and may even walk independently. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. In PBD1B, the most common manifestations that are less apparent in ZS are sensorineural hearing loss and retinitis pigmentosa (summary by Steinberg et al., 2006). While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).Individuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Peroxisome Biogenesis Disorder NALD/IRDThe phenotypic spectrum of NALD/IRD peroxisome biogenesis disorders can be caused by mutation in members of the peroxin (PEX) gene family. The PEX genes encode proteins essential for the assembly of functional peroxisomes (summary by Distel et al., 1996). PBD1B is caused by mutation in the PEX1 gene on chromosome 7q21; PBD2B (OMIM ) is caused by mutation in the PEX5 gene (OMIM ) on chromosome 12p13.3; PBD3B (OMIM ) is caused by mutation in the PEX12 gene (OMIM ) on chromosome 17; PBD4B (OMIM ) is caused by mutation in the PEX6 gene (OMIM ) on chromosome 6p21.1; PBD5B (OMIM ) is caused by mutation in the PEX2 gene (OMIM ) on chromosome 8q21.1; PBD6B (OMIM ) is caused by mutation in the PEX10 gene (OMIM ) on chromosome 1p36.32; PBD7B (OMIM )is caused by mutation in the PEX26 gene (OMIM ) on chromosome 22q11.21; PBD8B (OMIM ) is caused by mutation in the PEX16 gene (OMIM ) on chromosome 11p11; PDB10B (OMIM ) is caused by mutation in the PEX3 gene (OMIM ) on chromosome 6q24; and PBD11B (OMIM ) is caused by mutation in the PEX13 gene (OMIM ) on chromosome 2p15.See PBD1A (OMIM ) for a phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, which is also caused by mutation in peroxin genes. The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; {215100}), and a mild PBD without rhizomelia (PBD9B ), are caused by mutation in the PEX7 gene (OMIM ) on chromosome 6q23.

PEROXISOME BIOGENESIS DISORDER 1B; PBD1B Is also known as peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease), peroxisome biogenesis disorder (nald/ird), adrenoleukodystrophy, autosomal neonatal, refsum disease, infantile, infantile phytanic acid storage disease;ird

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: ORPHANET OMIM

More info about PEROXISOME BIOGENESIS DISORDER 1B; PBD1B

Low match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as door syndrome, digitorenocerebral syndrome, drc syndrome, brachydactyly due to absence of distal phalanges, eronen syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO OMIM GARD MESH

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3

Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3 Is also known as glycosylphosphatidylinositol biosynthesis defect 7;gpibd7;congenital disorder of glycosylation due to pigt deficiency; mcahs type 3; multiple congenital anomalies-hypotonia-seizures syndrome type 3; pigt-cdg

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MONDO DOID ORPHANET OMIM UMLS

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3

Low match JOUBERT SYNDROME 1; JBTS1

Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as joubert syndrome;jbts, joubert-boltshauser syndrome, cerebelloparenchymal disorder iv;cpd4, cerebellooculorenal syndrome 1;cors1;cpd iv; cerebelloparenchymal disorder iv; classic joubert syndrome; joubert syndrome type a; joubert-boltshauser syndrome; pure joubert syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM SCTID MONDO ORPHANET DOID

More info about JOUBERT SYNDROME 1; JBTS1

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Renal cyst

Symptoms // Phenotype % cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Absent speech Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Renal cyst. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pica Epicanthus Seizures High forehead Micrognathia Abnormal facial shape Short stature Low-set ears Polydactyly Feeding difficulties Macrocephaly Anteverted nares Nystagmus Malar flattening Muscular hypotonia Scoliosis Downslanted palpebral fissures Cerebral atrophy Small nail High palate Ataxia Strabismus Hydrocephalus Open mouth Dandy-Walker malformation Hearing impairment Downturned corners of mouth Highly arched eyebrow Rod-cone dystrophy Molar tooth sign on MRI Cataract

Rare Symptoms - Less than 30% cases


Progressive Peripheral neuropathy Prominent nasal bridge Coloboma Wide nasal bridge Retinopathy Optic atrophy Hypoplasia of the corpus callosum Postaxial polydactyly Visual impairment Apraxia Growth delay Hypertelorism Cardiomyopathy Arrhythmia Ptosis Aggressive behavior Osteoporosis Cerebellar hypoplasia Large fontanelles Bilateral sensorineural hearing impairment Narrow forehead Hypermetropia Apnea Nail dystrophy Mandibular prognathia Situs inversus totalis Encephalocele Depressed nasal bridge Stage 5 chronic kidney disease Breathing dysregulation Occipital encephalocele Retinal coloboma Cephalocele Sensorineural hearing impairment Self-mutilation Oculomotor apraxia Short distal phalanx of finger Myopathy Microphthalmia Long philtrum Polymicrogyria Hepatic fibrosis Retinal dystrophy Cerebellar vermis hypoplasia Leukodystrophy Intellectual disability, severe Infantile onset Myopia Brachydactyly High myopia Respiratory tract infection Frontal bossing Blindness Oxycephaly Nyctalopia Neonatal hypotonia Nail dysplasia Abnormality of the fingernails Patent ductus arteriosus Recurrent respiratory infections Hyporeflexia Upslanted palpebral fissure Brachycephaly Abnormality of the genital system EEG abnormality Osteopenia Pectus excavatum Respiratory distress Microcephaly Arthrogryposis multiplex congenita Generalized myoclonic seizures Renal atrophy Elevated levels of phytanic acid Hypsarrhythmia Cortical visual impairment Delayed skeletal maturation Renal agenesis Triphalangeal thumb Wide mouth Anonychia Prominent nose Nephrocalcinosis Abnormality of the skin Infantile spasms Everted lower lip vermilion Bulbous nose Abnormality of the nervous system Hypoplasia of the iris Abnormality of the dentition Abnormal heart morphology Short phalanx of finger Severe sensorineural hearing impairment Cystic renal dysplasia Coarse facial features Prominent nasal tip Profound sensorineural hearing impairment Motor delay Status epilepticus Gait disturbance Calcinosis Abnormality of neuronal migration Macroglossia Postaxial hand polydactyly Oral cleft Abnormal form of the vertebral bodies Aganglionic megacolon Heterotopia Hand polydactyly Aplasia/Hypoplasia of the corpus callosum Chorioretinal coloboma Tachypnea Hypoplasia of the brainstem Dysgenesis of the cerebellar vermis Biparietal narrowing Abnormality of eye movement Protruding tongue Foot polydactyly Retinal dysplasia Impaired smooth pursuit Optic nerve coloboma Central apnea Abnormality of the hypothalamus-pituitary axis Agenesis of cerebellar vermis Abnormal pattern of respiration Abnormal saccadic eye movements Meningoencephalocele Abnormality of ocular smooth pursuit Elongated superior cerebellar peduncle Neonatal breathing dysregulation Abnormality of skin pigmentation Deep philtrum Episodic tachypnea Hypercalciuria Hypoplasia of the ulna Large for gestational age Atrophy/Degeneration affecting the brainstem Inverted nipples Restrictive cardiomyopathy Ureteral stenosis Low alkaline phosphatase Milia Cognitive impairment Nevus Tics Occipital myelomeningocele Iris coloboma Tremor Hemifacial spasm Enlarged fossa interpeduncularis Heterogeneous Prominent forehead Hyperactivity Feeding difficulties in infancy Telecanthus Brainstem dysplasia Hyperoxaluria Abnormality of the eye Abnormality of the foot Long face Progressive spinal muscular atrophy Hypoplasia of the bladder Very long chain fatty acid accumulation Irritability Short metacarpal Underdeveloped nasal alae Horseshoe kidney Congenital blindness Metaphyseal chondrodysplasia Hypertension Pneumonia Posteriorly rotated ears Short philtrum Deeply set eye Tented upper lip vermilion Craniosynostosis Meningocele Multiple renal cysts Morning glory anomaly Autosomal dominant inheritance Cryptorchidism Renal insufficiency Retrognathia Diabetes mellitus Elevated hepatic transaminase Autism Hydronephrosis Retinal degeneration Intellectual disability, moderate Facial asymmetry Corneal opacity Nephronophthisis Respiratory insufficiency Syndactyly Congenital onset Abnormal retinal morphology Ventriculomegaly Coma Elevated serum creatine phosphokinase Dilatation Glaucoma Respiratory failure Muscular dystrophy Macrotia Abnormality of the cerebral white matter Acrania Cerebral calcification Lissencephaly Holoprosencephaly Poor head control Cerebellar cyst Buphthalmos Renal cortical cysts Short neck Ventricular septal defect Protruding ear Short palm Hypocholesterolemia Cirrhosis Hepatomegaly Skeletal muscle atrophy Behavioral abnormality Midface retrusion Acidosis Jaundice Facial palsy Postnatal growth retardation Congenital cataract Dolichocephaly Ichthyosis Convex nasal ridge Failure to thrive Esotropia Abnormality of epiphysis morphology Abnormality of the face Nephrolithiasis Progressive muscle weakness Constriction of peripheral visual field Spinal muscular atrophy Impulsivity Epiphyseal stippling Severe hearing impairment Polar cataract Spasticity Pancreatic aplasia Short foot Unilateral renal agenesis Renal hypoplasia Oligohydramnios Sparse and thin eyebrow Hypertrichosis Recurrent urinary tract infections Horizontal nystagmus Multicystic kidney dysplasia Renal hypoplasia/aplasia Schizophrenia Focal seizures with impairment of consciousness or awareness Language impairment Long fingers Ureteral atresia Shawl scrotum Ovarian cyst Upper limb undergrowth Aplasia of the uterus Hyperconvex nail Long toe Ureterocele Urethral stenosis Subcortical cerebral atrophy Abnormality of upper lip Aplasia of the vagina Triangular-shaped open mouth


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