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
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
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
More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9
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Other less relevant matches:
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; RPSKALow 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
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 SYNDROMELow 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}.
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
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
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; MCAHS3Low 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).
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; JBTS1Top 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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