Delayed speech and language development, and Polyhydramnios

Diseases related with Delayed speech and language development and Polyhydramnios

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


Top matches:

High 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

High match CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

CAKUTHED is an autosomal dominant syndromic disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay (summary by Heidet et al., 2017).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

High match NOONAN SYNDROME 8; NS8

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Pica
  • Scoliosis


SOURCES: DOID MONDO OMIM UMLS

More info about NOONAN SYNDROME 8; NS8

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Other less relevant matches:

Medium match NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib, charcot-marie-tooth disease, type 6b;cmt6b

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MONDO UMLS

More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Medium match POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE

POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE Is also known as pmse syndrome;pmse syndrome

Related symptoms:

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


SOURCES: OMIM UMLS ORPHANET GARD MESH MONDO

More info about POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE

Medium match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP

The microcephaly-capillary malformation syndrome is a congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects (summary by Carter et al., 2011 and Mirzaa et al., 2011).

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP Is also known as ;mic-cap syndrome; mic-cm syndrome; microcephaly-cutaneous capillary malformation syndrome

Related symptoms:

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


SOURCES: SCTID UMLS OMIM MONDO ORPHANET

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP

Medium match GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: UMLS OMIM MONDO DOID

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as glycosylphosphatidylinositol biosynthesis defect 12;gpibd12

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Medium match NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL

Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1 ) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by Martinelli et al., 2010). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML ), as also seen in patients with Noonan syndrome (summary by Niemeyer et al., 2010).

NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL Is also known as cbl syndrome, cbl mutation-associated syndrome;cbl syndrome; noonan syndrome-like disorder with jmml

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: MONDO OMIM ORPHANET UMLS

More info about NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL

Medium match ADAMS-OLIVER SYNDROME 2; AOS2

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS OMIM MONDO

More info about ADAMS-OLIVER SYNDROME 2; AOS2

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Short stature Strabismus Growth delay Epicanthus Pica Optic atrophy Hearing impairment Abnormal facial shape Intellectual disability Spasticity Oligohydramnios Low-set ears Edema Dilatation Narrow forehead Hypoplasia of the corpus callosum Bulbous nose Leukemia Abnormal cardiac septum morphology Cerebellar hypoplasia Flexion contracture Brachydactyly Ptosis Downslanted palpebral fissures Macrocephaly Short neck Wide nasal bridge Severe global developmental delay Motor delay Micrognathia Scoliosis Ventriculomegaly Muscular hypotonia of the trunk Feeding difficulties Cerebral atrophy Intrauterine growth retardation Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Wide intermamillary distance Pleural effusion Highly arched eyebrow Corpus callosum atrophy Ventricular hypertrophy Lymphedema Wide mouth Congenital onset Clinodactyly Low posterior hairline Pectus excavatum Webbed neck Chylothorax Nystagmus Cortical gyral simplification Myoclonus Wide anterior fontanel Small nail Sloping forehead Short distal phalanx of finger Poor speech Difficulty walking Clonus Tented upper lip vermilion Oxycephaly Congenital cataract Posteriorly rotated ears Midface retrusion Hypertonia Cerebellar atrophy Visual impairment Joint laxity Microphthalmia Long palpebral fissure Respiratory distress Autosomal dominant inheritance Narrow face Thin upper lip vermilion Vesicoureteral reflux Renal insufficiency Atrial septal defect Cardiomyopathy Ventricular septal defect Myopathy Abnormality of the nervous system Nephrocalcinosis Deep philtrum Diffuse mesangial sclerosis Cafe-au-lait spot Hand clenching Mania Hypoplastic left heart Focal segmental glomerulosclerosis Cataract Glomerulosclerosis Hypoalbuminemia Hypertensive crisis Inguinal hernia Cutis marmorata High palate Narrow palpebral fissure Hypocalcemia Short finger Dermal atrophy Vomiting Elevated serum creatine phosphokinase Hyperactivity Cerebral palsy Low anterior hairline Abdominal pain Osteopenia Respiratory tract infection Lissencephaly Coarctation of aorta Leukodystrophy Retinal fold Central hypotonia Short 5th finger Retinal nonattachment Right ventricular hypertrophy Capillary malformation Cutis marmorata telangiectatica congenita Hemiclonic seizures Abnormal hair whorl Falciform retinal fold Abdominal wall defect Retrocerebellar cyst Proteinuria Coloboma Postnatal microcephaly Periventricular leukomalacia Aplasia cutis congenita of scalp Adactyly Nephrotic syndrome Cerebellar cyst Camptodactyly Aplasia cutis congenita Hip dislocation Ichthyosis Arachnodactyly Convex nasal ridge Deeply set eye Pachygyria Developmental regression Abnormal lung morphology Blue sclerae Thick vermilion border Postnatal growth retardation Sparse hair Agenesis of corpus callosum Broad forehead Joint hypermobility Depressivity Syndactyly Hydrocephalus Nevus Juvenile myelomonocytic leukemia Falls Arteritis B-cell lymphoma Alopecia Ascites Lymphoma Fine hair Mitral regurgitation Short attention span Aortic valve stenosis Vasculitis Hydrops fetalis Bicuspid aortic valve Redundant skin Poor suck Cubitus valgus Hepatosplenomegaly Abnormal heart morphology Hip dysplasia Chronic lung disease Gliosis Limb undergrowth Elbow flexion contracture Overfolded helix Knee flexion contracture Elevated alkaline phosphatase Aspiration Single transverse palmar crease Colitis 2-3 toe syndactyly Hip contracture Large earlobe Thickened helices Macrotia Enterocolitis Prominent nasal tip Shortening of all distal phalanges of the fingers Echogenic fetal bowel Short foot Retinal detachment EEG with multifocal slow activity Hypertension Frontal bossing Polymicrogyria Splenomegaly Long philtrum Protruding ear Triangular face Status epilepticus Patent foramen ovale Relative macrocephaly Bifid ureter Decreased numbers of nephrons Cognitive impairment Patent ductus arteriosus Erythema Hyperkeratosis Hypertrophic cardiomyopathy Autoimmunity Pulmonic stenosis Abnormality of the cardiovascular system Hyperpigmentation of the skin Left ventricular hypertrophy Hyperextensible skin Systemic lupus erythematosus Hyperechogenic kidneys Abnormality of the sternum Curly hair Acute lymphoblastic leukemia Graves disease Palmoplantar cutis laxa Ataxia Peripheral neuropathy Hyperreflexia Skeletal muscle atrophy Tremor Dysphagia Hyporeflexia Areflexia Urethral valve Ectopic kidney Babinski sign Abnormality of the genitourinary system Respiratory insufficiency Obesity Recurrent respiratory infections Rod-cone dystrophy Abnormality of the genital system Polydactyly Micromelia Narrow chest Postaxial polydactyly Stage 5 chronic kidney disease Ectodermal dysplasia Short ribs Short long bone Metaphyseal widening Chronic kidney disease Short thorax Thoracic hypoplasia Bell-shaped thorax Thoracic dysplasia Horizontal ribs Autism Autistic behavior Abnormality of the kidney Renal hypoplasia Renal dysplasia Horseshoe kidney Spina bifida occulta Spina bifida Abnormality of the urinary system Pes cavus Acidosis Spastic tetraparesis Minimal subcutaneous fat Calcinosis Drooling Focal seizures with impairment of consciousness or awareness Increased body weight Diabetes insipidus Decreased muscle mass Shock Megalencephaly Facial hypotonia Thick upper lip vermilion Large forehead Astrocytosis Multifocal epileptiform discharges Hyperplasia of midface Open mouth Hypovolemic shock Cleft palate Short nose Intellectual disability, moderate Aggressive behavior Small for gestational age Downturned corners of mouth Wide nose Hypoplasia of the maxilla Delayed myelination Tetraparesis Short toe Progressive microcephaly Inability to walk Thick lower lip vermilion Respiratory failure Exotropia Visual loss Irritability Pallor Distal sensory impairment Abnormality of the cerebral white matter Lactic acidosis Distal amyotrophy Dysmetria Tapered finger Polyneuropathy Sensory impairment Peripheral demyelination Progressive visual loss Trophic changes related to pain Focal seizures Narrow palate Sensorimotor neuropathy Steppage gait Atrophy/Degeneration affecting the brainstem Inverted nipples Absent Achilles reflex Pontocerebellar atrophy Cone dysfunction syndrome Muscular hypotonia Congestive heart failure Absent speech High forehead Long face Premature birth Small finger


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