Delayed speech and language development, and Oligohydramnios

Diseases related with Delayed speech and language development and Oligohydramnios

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


Top matches:

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: MONDO UMLS OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

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

Medium 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

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Other less relevant matches:

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 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

Medium match GALLOWAY-MOWAT SYNDROME 1; GAMOS1

Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by Vodopiutz et al., 2015). Genetic Heterogeneity of Galloway-Mowat SyndromeGAMOS2 (OMIM ) is caused by mutation in the LAGE3 gene (OMIM ) on chromosome Xq28; GAMOS3 (OMIM ) is caused by mutation in the OSGEP gene (OMIM ) on chromosome 14q11; GAMOS4 (OMIM ) is caused by mutation in the TP53RK gene (OMIM ) on chromosome 20q13; and GAMOS5 (OMIM ) is caused by mutation in the TPRKB gene (OMIM ) on chromosome 2p13.

GALLOWAY-MOWAT SYNDROME 1; GAMOS1 Is also known as microcephaly, hiatal hernia, and nephrotic syndrome, galloway syndrome, nephrosis-neuronal dysmigration syndrome, nephrosis-microcephaly syndrome, cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities;camos, spinocerebellar ataxia, autosomal recessive 5, formerly;scar5, formerly;galloway syndrome; microcephaly-hiatus hernia-nephrotic syndrome; nephrosis-neuronal dysmigration syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET UMLS SCTID MONDO

More info about GALLOWAY-MOWAT SYNDROME 1; GAMOS1

Medium match PRADER-WILLI SYNDROME; PWS

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM

More info about PRADER-WILLI SYNDROME; PWS

Medium match OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae (Jenkins et al., 2009). In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability due to pressure on cranial nerves, e.g., deafness. Osteopathia striata is a frequent feature of focal dermal hypoplasia (FDH ).Although early reports of familial cases of this disorder appeared to suggest autosomal dominant inheritance (see, e.g., Horan and Beighton, 1978 and Konig et al., 1996), reappraisal of the literature (Behninger and Rott, 2000; Rott et al., 2003) and the finding of a molecular basis for the disorder by Jenkins et al. (2009) confirms that the inheritance pattern is X-linked dominant. Affected males who survive have a more severe phenotype than affected females, and sporadic male cases may result from somatic mosaicism (Behninger and Rott, 2000).

OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS Is also known as hyperostosis generalisata with striations;hyperostosis generalisata with striations; robinow-unger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: GARD EFO UMLS DOID OMIM SCTID MONDO MESH ORPHANET

More info about OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

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

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Polyhydramnios Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Pica

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Dilatation

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Autosomal recessive inheritance Hypoplasia of the corpus callosum Cerebral atrophy Ventriculomegaly Feeding difficulties Intrauterine growth retardation Small nail Arachnodactyly Failure to thrive Spasticity Low-set ears Renal insufficiency Depressed nasal bridge Anteverted nares Scoliosis Cerebellar hypoplasia Motor delay Growth delay Cryptorchidism Nevus Muscular hypotonia of the trunk High palate Downslanted palpebral fissures Cognitive impairment Wide nasal bridge Hydrocephalus Short foot Cleft palate Ptosis Hypertonia Optic atrophy Camptodactyly Nephrotic syndrome Microphthalmia Edema Intellectual disability, severe Nystagmus Sloping forehead Narrow forehead Syndactyly Clinodactyly Autism Renal hypoplasia Abnormality of the nervous system Thin upper lip vermilion Abnormality of the kidney Talipes equinovarus Abnormality of the dentition

Rare Symptoms - Less than 30% cases


Myopathy Abnormal renal morphology Neoplasm Hypertension Midface retrusion Pectus excavatum Flat occiput Cerebellar atrophy Pain Proteinuria Wide anterior fontanel Central hypotonia Cortical gyral simplification Pachygyria Tics Delayed myelination Specific learning disability Nasal speech Downturned corners of mouth Aortic valve stenosis Short distal phalanx of finger Severe global developmental delay Small for gestational age Coarctation of aorta Intellectual disability, mild Postnatal microcephaly Abnormal heart morphology Apnea Vomiting Hypothyroidism Pruritus Milia Dolichocephaly Cataract Muscular hypotonia Narrow palpebral fissure Wide intermamillary distance Gliosis Polymicrogyria Posteriorly rotated ears Prominent forehead Nephropathy Sleep disturbance Macrocephaly Hypopigmentation of the skin Joint contracture of the hand Visual impairment Flexion contracture Diffuse mesangial sclerosis Spontaneous abortion Hand clenching Corpus callosum atrophy Hypoplastic left heart Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Protruding ear Large fontanelles Spina bifida Absent speech Congenital onset Diabetes mellitus Retrognathia High forehead Frontal bossing Multicystic kidney dysplasia Hydronephrosis Abnormal cardiac septum morphology Spina bifida occulta Hyperechogenic kidneys Vesicoureteral reflux Chronic kidney disease Hypermetropia Short palm Brachydactyly Ventricular septal defect Stage 5 chronic kidney disease Short nose Ataxia Abdominal obesity Central adrenal insufficiency Narrow palm Tubulointerstitial nephritis Hypopnea Temperature instability Triangular mouth Anteverted ears Disseminated intravascular coagulation Psychotic episodes Erysipelas Hypoplastic labia minora Clitoral hypoplasia Poor fine motor coordination Asymmetry of the thorax Almond-shaped palpebral fissure Enlarged kidney Anal atresia Hyperkalemia Craniosynostosis Hyperlordosis Skeletal dysplasia Facial palsy Conductive hearing impairment Gastroesophageal reflux Headache Abnormality of the genital system Oxycephaly Poor gross motor coordination Severe short stature Brachycephaly Patent ductus arteriosus Elevated serum creatinine Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Long philtrum Frontal upsweep of hair Atrial septal defect Short neck Acromicria Abnormality of the skeletal system Pulmonary insufficiency Cor pulmonale Radial deviation of finger Adrenal insufficiency Decreased muscle mass Failure to thrive in infancy Glucose intolerance Sleep apnea Increased body weight Skeletal muscle hypertrophy Large hands Albinism Scrotal hypoplasia Poor suck Truncal obesity Emotional lability Renal cortical microcysts Precocious puberty Absence of renal corticomedullary differentiation Hyperinsulinemia Chronic tubulointerstitial nephritis Bicuspid aortic valve Hypogonadotrophic hypogonadism Bradycardia Insulin resistance Infantile muscular hypotonia External genital hypoplasia Generalized hypopigmentation Acrocyanosis Cholestatic liver disease Portal fibrosis Labial hypoplasia Hypothermia Oliguria Narrow nasal bridge Chromosome breakage Oligomenorrhea Myeloid leukemia Ocular albinism Abnormality of lipid metabolism Inflammation of the large intestine Overweight Hypoplasia of the fovea Iris hypopigmentation Tubulointerstitial abnormality Hypoventilation Striae distensae Impaired pain sensation Intestinal bleeding Hypopigmentation of hair Polyphagia Microtia Delayed eruption of teeth Broad forehead Hyperostosis Laryngotracheomalacia Laryngeal web Craniofacial osteosclerosis High iliac wings Tracheomalacia Osteopathia striata Unilateral facial palsy Submucous cleft hard palate Thickened calvaria Nephrogenic rest Straight clavicles Facial hyperostosis Metaphyseal striations Paranasal sinus hypoplasia Anemia Partial agenesis of the corpus callosum Aphasia Dysphasia Clumsiness Hepatomegaly Respiratory insufficiency Acidosis Large iliac wings Alobar holoprosencephaly Increased susceptibility to fractures Ankylosis Fibular aplasia Flexion contracture of toe Facial paralysis Thoracic dysplasia Large forehead Thoracolumbar kyphosis Sclerosis of skull base White forelock Delayed closure of the anterior fontanelle Rough bone trabeculation Broad ribs Broad clavicles Echolalia Ectopic anus Poroma Misalignment of teeth Lobar holoprosencephaly Osteopetrosis Pierre-Robin sequence Fibular hypoplasia Mixed hearing impairment Natal tooth Respiratory failure Abnormality of the liver Cleft lip Webbed neck Intestinal malrotation Lumbar hyperlordosis Thick lower lip vermilion Dental malocclusion Paralysis Situs inversus totalis Cerebral calcification Broad nasal tip Polydipsia Polycystic kidney dysplasia Thick vermilion border Open mouth Nephronophthisis Bifid uvula Abnormality of the skin High, narrow palate Otosclerosis Polyuria Long face Flat face Thin vermilion border Cleft upper lip Abnormality of the metaphysis X-linked dominant inheritance Renal cyst Mutism Pulmonary hypoplasia Delayed cranial suture closure Visual field defect Metabolic acidosis Nephroblastoma Anal stenosis Cutaneous syndactyly Overfolded helix Metaphyseal widening Cholestasis Pyloric stenosis Omphalocele Holoprosencephaly Hand polydactyly Microretrognathia Narrow palate Nephritis Increased bone mineral density Osteolysis Abnormal vertebral morphology Aganglionic megacolon Dental crowding Cyanosis Hypoplasia of the iris Abnormality of the cardiovascular system Short 5th finger Leukodystrophy Convex nasal ridge Ichthyosis Hip dislocation Coloboma Abnormal hair whorl Hemiclonic seizures Capillary malformation Right ventricular hypertrophy Long palpebral fissure Lissencephaly Patent foramen ovale Spastic tetraparesis Progressive microcephaly Short toe Tetraparesis Ventricular hypertrophy Poor speech Hypoplasia of the maxilla Wide nose Clonus Hypocalcemia Hypertensive crisis Intellectual disability, moderate Short finger Retrocerebellar cyst Retinal fold Periventricular leukomalacia Aplasia cutis congenita of scalp Adactyly Cerebellar cyst Aplasia cutis congenita Mania Cutis marmorata Dermal atrophy Depressivity Cerebral palsy Low anterior hairline Lymphedema Blue sclerae Single transverse palmar crease Retinal detachment Bulbous nose Congenital cataract Alopecia Agenesis of corpus callosum Aggressive behavior Myoclonus Falciform retinal fold Ectopic kidney Nail dystrophy Facial asymmetry Elevated hepatic transaminase Mandibular prognathia Malar flattening Autosomal dominant inheritance Decreased numbers of nephrons Bifid ureter Urethral valve Abnormality of the urinary system Bilateral sensorineural hearing impairment Deep philtrum Horseshoe kidney Narrow face Renal dysplasia Autistic behavior Hypoplasia of the pons Muscular dystrophy Elevated serum creatine phosphokinase Muscle weakness Sensorineural hearing impairment Highly arched eyebrow Sparse and thin eyebrow Pancreatic aplasia Aplasia of the uterus Ureteral atresia Aplasia of the vagina Abnormality of upper lip Hypoplasia of the bladder Subcortical cerebral atrophy Urethral stenosis Ureterocele Long toe Hyperconvex nail Upper limb undergrowth Hypertrichosis Ovarian cyst Shawl scrotum Long fingers Unilateral renal agenesis Language impairment Focal seizures with impairment of consciousness or awareness Schizophrenia Renal hypoplasia/aplasia Horizontal nystagmus Recurrent urinary tract infections Abdominal wall defect Cutis marmorata telangiectatica congenita Cutaneous photosensitivity Upslanted palpebral fissure Neonatal hypotonia Hypoglycemia Photophobia Osteopenia Hyperactivity Hypogonadism Narrow mouth Micropenis Osteoporosis Recurrent respiratory infections Weight loss Obesity Hyporeflexia Congestive heart failure Behavioral abnormality Kyphosis Fever Myopia Thyroid dysgenesis Encephalomalacia Hypoplasia of the ear cartilage Sporadic Abnormality of the pinna Congenital nephrotic syndrome Esotropia Primary amenorrhea Psychosis Decreased fetal movement Type II diabetes mellitus Hip dysplasia Growth hormone deficiency Amenorrhea Gastrointestinal hemorrhage Febrile seizures Full cheeks Respiratory tract infection Sepsis Small hand Infertility Leukemia Tapered finger Stroke Carious teeth Genu valgum Delayed puberty Attention deficit hyperactivity disorder Albuminuria Abnormality of the intervertebral disk Retinal nonattachment Retinopathy Hematuria Premature birth Chorea Limitation of joint mobility Abnormality of the foot Talipes Irritability Prominent nasal bridge Wide mouth Camptodactyly of finger Brain atrophy EEG abnormality Macrotia Cerebral cortical atrophy Pes cavus Hernia Arrhythmia Dystonia Infantile onset Hyperreflexia Small finger Tetraplegia Prominent nose Axial dystonia Proportionate short stature Narrow nasal ridge Spastic ataxia Mild microcephaly Aqueductal stenosis Tubular atrophy Diffuse cerebral atrophy Hiatus hernia Adrenal hypoplasia Congenital hypothyroidism Slender finger Abnormality of immune system physiology Hypotelorism Abnormality of neuronal migration Hypoplasia of the brainstem Hemiplegia/hemiparesis Adducted thumb Opacification of the corneal stroma Heterotopia Dandy-Walker malformation Inability to walk Hypsarrhythmia Spastic tetraplegia Hyperkalemic metabolic acidosis



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