Delayed speech and language development, and Polycystic kidney dysplasia

Diseases related with Delayed speech and language development and Polycystic kidney dysplasia

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


Top matches:

Medium match OROFACIODIGITAL SYNDROME VI; OFD6

Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014).

OROFACIODIGITAL SYNDROME VI; OFD6 Is also known as oral-facial-digital syndrome, type vi, ofds vi, varadi-papp syndrome, varadi syndrome, polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation;joubert syndrome with oral-facial-digital syndrome; joubert syndrome with orofaciodigital defect; ofd6; oral-facial-digital syndrome type 6; polydactyly-cleft lip/palate-psychomotor retardation syndrome; váradi syndrome; váradi-papp syndrome

Related symptoms:

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


SOURCES: SCTID UMLS OMIM ORPHANET

More info about OROFACIODIGITAL SYNDROME VI; OFD6

Medium match PHELAN-MCDERMID SYNDROME; PHMDS

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome;22q13 deletion; phelan-mcdermid syndrome

Related symptoms:

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


SOURCES: UMLS MONDO OMIM ORPHANET GARD SCTID MESH

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Medium match MECKEL SYNDROME 13; MKS13

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Micrognathia
  • Flexion contracture


SOURCES: OMIM MONDO DOID

More info about MECKEL SYNDROME 13; MKS13

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Other less relevant matches:

Medium match NEPHRONOPHTHISIS 2; NPHP2

NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Anemia
  • Hepatomegaly
  • Hypertension


SOURCES: MONDO OMIM

More info about NEPHRONOPHTHISIS 2; NPHP2

Medium match DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; NDH

Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is characterized by intrauterine growth retardation and onset of nonimmune diabetes mellitus within the first few weeks of life. Other features include renal parenchymal disease, primarily renal cystic dysplasia, and hepatic disease, with hepatitis in some patients and hepatic fibrosis and cirrhosis in others. Facial dysmorphism, when present, consistently involves low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip. Most patients exhibit developmental delay (Dimitri et al., 2015).

DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; NDH Is also known as ndh syndrome;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Pica
  • Hearing impairment
  • Growth delay


SOURCES: MONDO UMLS MESH ORPHANET DOID OMIM

More info about DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; NDH

Medium match VERHEIJ SYNDROME; VRJS

Verheij syndrome (VRJS) is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects (summary by Verheij et al., 2009 and Dauber et al., 2013).

VERHEIJ SYNDROME; VRJS Is also known as chromosome 8q24.3 deletion syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: GARD ORPHANET UMLS MONDO OMIM

More info about VERHEIJ SYNDROME; VRJS

Medium match MCKUSICK-KAUFMAN SYNDROME; MKKS

McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome, hydrometrocolpos, postaxial polydactyly, and congenital heart malformation;hmcs, kaufman-mckusick syndrome;hydrometrocolpos-postaxial polydactyly syndrome; kaufman-mckusick syndrome

Related symptoms:

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


SOURCES: MESH OMIM SCTID GARD MONDO UMLS ORPHANET

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

Medium match ARIMA SYNDROME

Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, cystic kidney disease, and, in some cases, liver disease. It shares phenotypic features with Joubert syndrome (see {213300}), COACH syndrome (OMIM ), and familial juvenile nephronophthisis (see {256100}).

ARIMA SYNDROME Is also known as dekaban-arima syndrome, joubert syndrome with bilateral chorioretinal coloboma, coloboma, chorioretinal, with cerebellar vermis aplasia, cerebrooculohepatorenal syndrome;arima syndrome; cors; cerebellooculorenal syndrome; dekaban-arima syndrome; js type b; js-or; joubert syndrome with senior-loken syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET UMLS SCTID

More info about ARIMA SYNDROME

Medium match TUBEROUS SCLEROSIS 1; TSC1

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex;tsc, tuberose sclerosis;ts;bourneville syndrome; tuberous sclerosis

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica


SOURCES: ORPHANET OMIM GARD MONDO NCIT SCTID ICD10 UMLS

More info about TUBEROUS SCLEROSIS 1; TSC1

Medium match PERLMAN SYNDROME; PRLMNS

Perlman syndrome is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS ). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).

PERLMAN SYNDROME; PRLMNS Is also known as renal hamartomas, nephroblastomatosis, and fetal gigantism, nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor;nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome

Related symptoms:

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


SOURCES: SCTID DOID MESH ORPHANET OMIM UMLS NCIT MONDO GARD

More info about PERLMAN SYNDROME; PRLMNS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Polycystic kidney dysplasia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Renal cyst Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Pica

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the kidney Abnormal facial shape Hepatomegaly Epicanthus Polydactyly Renal insufficiency High palate Atrial septal defect Micrognathia Growth delay Generalized hypotonia Scoliosis Anteverted nares Posteriorly rotated ears Hepatic fibrosis Abnormality of the genital system Molar tooth sign on MRI Hydronephrosis Dilatation Renal dysplasia Enlarged kidney Agenesis of corpus callosum Aplasia/Hypoplasia of the corpus callosum Syndactyly Cleft palate Short stature Ptosis Ataxia Ventricular septal defect Failure to thrive Hernia Muscular hypotonia Cryptorchidism Low-set ears Abnormality of the liver Long philtrum Hamartoma Wide nasal bridge Hypertension Postaxial polydactyly

Rare Symptoms - Less than 30% cases


Anemia Specific learning disability Encephalocele Cardiomegaly Respiratory insufficiency Nephroblastoma Umbilical hernia Lymphedema Intellectual disability, moderate Intellectual disability, mild Patent ductus arteriosus Obesity Oxycephaly Autism EEG abnormality Abnormality of the pinna Hepatitis Deeply set eye Dolichocephaly Autistic behavior High, narrow palate Postaxial hand polydactyly Tall stature Polyhydramnios Abnormality of the skeletal system Respiratory failure Retrognathia Heterotopia Iris coloboma Behavioral abnormality Autosomal dominant inheritance Short nose Cerebral atrophy Postaxial foot polydactyly Lumbar hyperlordosis Tarsal synostosis Edema Abnormality of cardiovascular system morphology Hypospadias Respiratory distress Aganglionic megacolon Choanal atresia Anal atresia Abnormal cardiac septum morphology Polyuria Pulmonary hypoplasia Nephropathy Stage 5 chronic kidney disease Cholestasis Polydipsia Nephronophthisis Neoplasm Hyperlordosis Depressed nasal bridge Splenomegaly Coma Glaucoma Hypothyroidism Thin upper lip vermilion Macrocephaly Abdominal distention Feeding difficulties Clinodactyly Abnormality of neuronal migration Biparietal narrowing Occipital meningocele Intellectual disability, severe Inguinal hernia Absent speech Micropenis Foot polydactyly Mesoaxial hand polydactyly Highly arched eyebrow Acrania Long face Adactyly Oculomotor apraxia Low-set, posteriorly rotated ears Prominent nasal bridge Gait disturbance Apnea Renal agenesis Brachydactyly Hearing impairment Microcephaly Strabismus Nystagmus Renal hypoplasia/aplasia Hypertelorism Motor delay Tachypnea Nevus Hand polydactyly Cerebellar vermis hypoplasia Apraxia Thymus hyperplasia Abnormality of the hypothalamus-pituitary axis Nephroblastomatosis Abnormality of upper lip Tubular atrophy Agenesis of cerebellar vermis Tubulointerstitial fibrosis Enlarged naris Fetal ascites Gliosis Dilated fourth ventricle Optic atrophy Papule Abnormality of the cerebral white matter Attention deficit hyperactivity disorder Carcinoma Heterogeneous Congestive heart failure Undetectable electroretinogram Long upper lip Retinal detachment Milia Brainstem dysplasia Everted upper lip vermilion Aplasia/Hypoplasia of the cerebellar vermis Renal corticomedullary cysts Stroke Visceromegaly Arrhythmia Wide mouth Hypoplasia of the brainstem Hypoplastic left heart Urogenital sinus anomaly Vaginal atresia Nonimmune hydrops fetalis Rectovaginal fistula Edema of the lower limbs Ectopic anus Esophageal atresia Ileal atresia Tracheoesophageal fistula Penoscrotal hypospadias Hydroureter Abnormality of the metacarpal bones Hydrops fetalis Multicystic kidney dysplasia Congenital hip dislocation Prominent xiphoid process Abnormal vertebral morphology Primary amenorrhea Chordee Scrotal hypospadias Chorioretinal coloboma Blindness Nephrogenic rest Intellectual disability, progressive Abnormality of pancreas morphology Retinal dystrophy Hepatic steatosis Hypoplasia of the abdominal wall musculature Dyspnea Renal hamartoma Hydrocephalus Urethral stricture Visual impairment Pelvic mass Hydrocolpos Vesicovaginal fistula Prominent scrotal raphe Transverse vaginal septum Naevus flammeus of the eyelid Hydrometrocolpos Glandular hypospadias Tachycardia Brain atrophy Cerebral calcification Angiofibromas Cortical tubers Hypomelanotic macule Hemangioma Hyperinsulinemia Tented upper lip vermilion Growth abnormality Chordoma Ungual fibroma Cardiac rhabdomyoma Renal angiomyolipoma Dental enamel pits Retinal hamartoma Global brain atrophy Rhabdomyoma Optic nerve glioma Premature chromatid separation Large for gestational age Shagreen patch Macrodactyly Adenoma sebaceum Subependymal nodules Confetti-like hypopigmented macules Capillary hemangioma Prominent forehead Round face Ascites Flat face Smooth philtrum Hypoplasia of penis Nephrotic syndrome Hepatosplenomegaly Muscular hypotonia of the trunk High forehead Congenital diaphragmatic hernia Bilateral single transverse palmar creases Open mouth Subependymal giant-cell astrocytoma Pulmonary lymphangiomyomatosis Projection of scalp hair onto lateral cheek Achromatic retinal patches Abnormality of the cardiovascular system Subungual fibromas Status epilepticus Overgrowth Wolff-Parkinson-White syndrome Chylothorax Broad alveolar ridges Subcutaneous nodule Ventricular tachycardia Precocious puberty Aortic aneurysm CNS hypomyelination Hypopigmented skin patches Macule Lumbar scoliosis Hypoplasia of dental enamel Generalized seizures Polysplenia Increased intracranial pressure Hypopigmentation of the skin Hypoxemia Femoral hernia Thickened helices Volvulus Macroglossia Interrupted aortic arch Intestinal atresia Pancreatic islet-cell hyperplasia Cafe-au-lait spot Fibroma Supraventricular tachycardia Renal neoplasm Thick upper lip vermilion Pneumothorax Abnormality of the pleura Gingival fibromatosis Skin tags Brain neoplasm Abnormality of the pancreas Astrocytoma Nevus flammeus Abnormality of the respiratory system Lipoma Multiple renal cysts Gingivitis Neoplasm of the pancreas Multiple cafe-au-lait spots Infantile spasms Renal cell carcinoma Prominent occiput Cortical dysplasia Multiple lipomas Emphysema Ependymoma Diabetes mellitus Tetralogy of Fallot Neonatal hypotonia Bulbous nose Hypermetropia Nausea and vomiting Facial asymmetry Respiratory tract infection Protruding ear Sporadic Aggressive behavior Gastroesophageal reflux Unsteady gait Hyperactivity Macrotia Constipation Immunodeficiency Hyporeflexia Clinodactyly of the 5th finger Malar flattening Abnormality of the dentition Thick eyebrow Vesicoureteral reflux Ventriculomegaly Pointed chin Broad-based gait Short chin Large hands Abnormality of the outer ear Recurrent skin infections Prominent supraorbital ridges Recurrent upper respiratory tract infections Sacral dimple Accelerated skeletal maturation Sleep disturbance Long eyelashes Hypohidrosis Dental crowding Cortical visual impairment Dental malocclusion Febrile seizures Full cheeks Thick vermilion border Hepatic failure Diarrhea Tics Cellulitis Cleft lip Preaxial hand polydactyly Radial deviation of finger Trigonocephaly Finger clinodactyly Dandy-Walker malformation Esotropia Broad nasal tip Abnormal cerebellum morphology Cleft upper lip Preaxial polydactyly Toe syndactyly Ranula Abnormality of the nervous system Feeding difficulties in infancy Conductive hearing impairment Abnormal heart morphology Tremor Fever Frontal bossing Tibial bowing Bilateral cryptorchidism Pain Hypothalamic hamartoma Cognitive impairment Central Y-shaped metacarpal Midline notch of upper alveolar ridge Hypoplasia of olfactory tract Cerebellar malformation Bulimia Episodic tachypnea Tongue nodules Partial agenesis of the corpus callosum Mesoaxial polydactyly Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Accessory oral frenulum Preaxial foot polydactyly Short femur Meningocele Abnormal retinal morphology Hypoplastic toenails 2-3 toe syndactyly Amenorrhea Buphthalmos Hypoplasia of the corpus callosum Short neck Splenic cyst Round ear Pancreatic hypoplasia Pancreatic cysts Sagittal craniosynostosis Cystic renal dysplasia Esophageal varix Joint laxity Thoracolumbar scoliosis Hiatus hernia Congenital hypothyroidism Congenital glaucoma Portal hypertension Wide anterior fontanel Bilateral sensorineural hearing impairment Sepsis Cirrhosis Congenital onset Coloboma Osteopenia Tracheomalacia Finger syndactyly Rod-cone dystrophy Laryngotracheomalacia Prominent nasal tip Auricular pit Short columella Short 5th finger Severe failure to thrive Vertebral fusion Hip dislocation Unilateral renal agenesis Preauricular pit Plagiocephaly Hemivertebrae Microretrognathia Narrow forehead Renal hypoplasia Underdeveloped nasal alae Delayed myelination Craniosynostosis Recurrent infections Impaired pain sensation Episodic vomiting Cerebellar hypoplasia Flexion contracture Recurrent pyelonephritis Fulminant hepatic failure Hair-pulling Tongue thrusting Hyperorality Cerebellar cortical atrophy Toenail dysplasia Cephalocele Periorbital fullness Heat intolerance Concave nasal ridge Delayed CNS myelination Bruxism Abnormality of the periventricular white matter Palpebral edema Arachnoid cyst Poor eye contact Retinopathy Occipital encephalocele Pneumonia Pulmonary insufficiency Intrauterine growth retardation Sensorineural hearing impairment Hyperkalemic metabolic acidosis Chronic tubulointerstitial nephritis Absence of renal corticomedullary differentiation Renal cortical microcysts Tubulointerstitial abnormality Oliguria Hyperechogenic kidneys Acidosis Portal fibrosis Cholestatic liver disease Tubulointerstitial nephritis Elevated serum creatinine Hyperkalemia Situs inversus totalis Nephritis Oligohydramnios Metabolic acidosis Distal ileal atresia



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