Delayed speech and language development, and Abnormality of the kidney

Diseases related with Delayed speech and language development and Abnormality of the kidney

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


Top matches:

Low match CRANIOSYNOSTOSIS 7; CRS7

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

CRANIOSYNOSTOSIS 7; CRS7 Is also known as craniosynostosis 7, digenic, crs7, digenic

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Delayed speech and language development
  • Craniosynostosis
  • Neurodevelopmental delay


SOURCES: MONDO UMLS OMIM

More info about CRANIOSYNOSTOSIS 7; CRS7

Low match SECKEL SYNDROME 6; SCKL6

Related symptoms:

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


SOURCES: UMLS DOID OMIM MONDO

More info about SECKEL SYNDROME 6; SCKL6

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

Mendelian

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Other less relevant matches:

Low match NEPHRONOPHTHISIS 18; NPHP18

Nephronophthisis-18 is an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients (summary by Failler et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Strabismus
  • Delayed speech and language development
  • Hypertension


SOURCES: DOID MONDO UMLS OMIM

More info about NEPHRONOPHTHISIS 18; NPHP18

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 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2

VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).For a discussion of genetic heterogeneity of VCRL, see VCRL1 (OMIM ).

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2 Is also known as congenital nad deficiency disorder 2, kynureninase deficiency, complete

Related symptoms:

  • Microcephaly
  • Delayed speech and language development
  • Patent ductus arteriosus
  • Syndactyly
  • Narrow chest


SOURCES: OMIM

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

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:

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


SOURCES: OMIM UMLS MONDO

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Low match BARDET-BIEDL SYNDROME 21; BBS21

BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Delayed speech and language development
  • Myopia
  • Blindness
  • Abnormality of the dentition


SOURCES: UMLS MONDO OMIM

More info about BARDET-BIEDL SYNDROME 21; BBS21

Low match HYPERPROLINEMIA, TYPE I; HYRPRO1

Phang et al. (2001) noted that prospective studies of HPI probands identified through newborn screening as well as reports of several families have suggested that it is a metabolic disorder not clearly associated with clinical manifestations. Phang et al. (2001) concluded that HPI is a relatively benign condition in most individuals under most circumstances. However, other reports have suggested that some patients have a severe phenotype with neurologic manifestations, including epilepsy and mental retardation (Jacquet et al., 2003). Genetic Heterogeneity of HyperprolinemiaSee also hyperprolinemia type II (HYRPRO2 ), which is caused by mutation in the gene encoding pyrroline-5-carboxylate dehydrogenase (P5CDH, ALDH4A1; {606811}) on chromosome 1p36.

HYPERPROLINEMIA, TYPE I; HYRPRO1 Is also known as hpi, proline oxidase deficiency;proline oxidase deficiency

Related symptoms:

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


SOURCES: OMIM MONDO UMLS ORPHANET SCTID

More info about HYPERPROLINEMIA, TYPE I; HYRPRO1

Low match SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Cryptorchidism
  • Delayed speech and language development
  • Brachydactyly


SOURCES: MONDO UMLS OMIM DOID

More info about SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Abnormality of the kidney

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Absent speech Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Postaxial polydactyly Seizures Short stature Stage 5 chronic kidney disease Rod-cone dystrophy

Rare Symptoms - Less than 30% cases


Aggressive behavior Nephrocalcinosis Nephronophthisis Renal cyst Respiratory insufficiency Syndactyly Obesity Motor delay Microcephaly Narrow chest Generalized hypotonia Sleep disturbance Status epilepticus Nephropathy Ichthyosis Proteinuria EEG abnormality Hyperactivity Behavioral abnormality Autosomal dominant inheritance Reduced amplitude of dark-adapted bright flash electroretinogram a-wave Tics Neoplasm Muscular hypotonia Hearing impairment Hyperautofluorescent macular lesion Hemiparesis Retinal thinning Hypoplasia of the fovea Chorioretinal atrophy Constriction of peripheral visual field Retinal atrophy Cone/cone-rod dystrophy Nephritis Hyperprolinemia Stereotypy Polyhydramnios Thoracic dysplasia Bell-shaped thorax Thoracic hypoplasia Short thorax Metaphyseal widening Abnormality of the genitourinary system Short long bone Short ribs Ectodermal dysplasia Micromelia Abnormality of the genital system Recurrent respiratory infections Schizophrenia Respiratory distress Renal insufficiency Brachydactyly Cryptorchidism High myopia Hydroxyprolinuria Prolinuria Hyperglycinuria Bruxism Motor deterioration Nephroblastoma Horseshoe kidney Unilateral renal agenesis Postaxial hand polydactyly Tubulointerstitial nephritis Self-mutilation Abnormal retinal morphology Molar tooth sign on MRI Oculomotor apraxia Apraxia Retinopathy Congenital onset Thickening of the glomerular basement membrane Portal fibrosis Tubular atrophy Cholestasis Talipes Dilatation Hydrocephalus Hypertension Strabismus Situs inversus totalis Progressive Abnormal facial shape Scoliosis Neurodevelopmental delay Craniosynostosis Patent ductus arteriosus Renal hypoplasia Hypodontia Focal seizures Retinal dystrophy Elevated hepatic transaminase Elevated serum creatine phosphokinase Abnormality of the dentition Blindness Myopia Obsessive-compulsive trait Hyperparathyroidism Calcinosis Generalized seizures Highly arched eyebrow Rhizomelia Triangular face Thin vermilion border Smooth philtrum Anxiety Thin upper lip vermilion Intellectual disability, moderate Downslanted palpebral fissures Depressed nasal bridge Hypertelorism Restrictive deficit on pulmonary function testing Hypoplastic left heart Horizontal ribs


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