Delayed speech and language development, and Patent ductus arteriosus

Diseases related with Delayed speech and language development and Patent ductus arteriosus

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21

MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM ORPHANET DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21

Medium match SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD

SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD Is also known as ;short stature-developmental delay-congenital heart defect syndrome; tkt deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS ORPHANET MONDO OMIM

More info about SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD

Medium 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

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Other less relevant matches:

Medium match STANKIEWICZ-ISIDOR SYNDROME; STISS

Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: UMLS OMIM

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

Medium match GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD

Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness (summary by Daoud et al., 2016).

GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD Is also known as ;

Related symptoms:

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


SOURCES: ORPHANET UMLS OMIM MESH MONDO

More info about GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD

Medium 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

Medium match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM UMLS MONDO

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Medium match CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE

The Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (review by Toriello et al., 2003).

CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE Is also known as toriello-carey syndrome;corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

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


SOURCES: GARD ORPHANET OMIM SCTID MONDO MESH UMLS

More info about CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 32; MRD32

MENTAL RETARDATION, AUTOSOMAL DOMINANT 32; MRD32 Is also known as ;

Related symptoms:

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


SOURCES: ORPHANET DOID OMIM UMLS MONDO

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 32; MRD32

Medium match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2 Is also known as ;ns/lah; tosti syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIMPS ORPHANET UMLS OMIM

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Patent ductus arteriosus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Short neck Microcephaly Cleft palate Atrial septal defect Ptosis Hearing impairment Hypertelorism Abnormality of cardiovascular system morphology Autosomal dominant inheritance Retrognathia Abnormal cardiac septum morphology Brachydactyly Abnormal facial shape Feeding difficulties Strabismus Thin vermilion border Anteverted nares Hydrocephalus Cardiomyopathy Hypertrophic cardiomyopathy Failure to thrive Absent speech Pulmonic stenosis Growth delay Patent foramen ovale Low-set ears Downslanted palpebral fissures Autosomal recessive inheritance Epicanthus Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Posteriorly rotated ears Sensorineural hearing impairment Low-set, posteriorly rotated ears Myopathy Neonatal respiratory distress Macrocephaly Hernia Pica Micrognathia Webbed neck Bifid uvula Ventricular hypertrophy Dandy-Walker malformation Left ventricular hypertrophy Relative macrocephaly Low posterior hairline Cortical visual impairment Seizures Downturned corners of mouth Abnormality of the dentition Short nose Coarctation of aorta Respiratory distress Syndactyly Narrow chest Talipes Clinodactyly Hypoplastic left heart Joint hypermobility Visual impairment Hypospadias Craniosynostosis Hydronephrosis Thin upper lip vermilion Oxycephaly Postural instability Blepharophimosis Wide anterior fontanel Depressed nasal bridge Neonatal hypotonia Anteriorly placed anus Large fontanelles Cerebellar vermis hypoplasia Cerebellar hypoplasia Agenesis of corpus callosum Respiratory failure Telecanthus Abnormality of the pinna Gastroesophageal reflux Dystonia Tracheal stenosis Narrow palpebral fissure Intellectual disability, severe Tracheomalacia Laryngeal hypoplasia Anotia Pierre-Robin sequence Full cheeks Redundant neck skin Short palpebral fissure Cleft soft palate Short palm Proximal placement of thumb Abnormality of the larynx Optic atrophy Delayed skeletal maturation Prominent nasal bridge Natal tooth Abnormal palate morphology Deep philtrum Coarse hair Optic nerve hypoplasia Cafe-au-lait spot Overfolded helix Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Freckling Right bundle branch block Mitral regurgitation Broad neck Abnormality of the elbow Arnold-Chiari type I malformation Fragile nails Peripheral pulmonary artery stenosis Thickened helices Slow-growing hair Dermal translucency Abnormality of the intervertebral disk Abnormality of the fingernails Sparse scalp hair Poor speech Chronic lung disease Broad nasal tip Intestinal malrotation Narrow forehead Abnormal lung morphology Microretrognathia Plagiocephaly Laryngomalacia Preauricular pit Muscle stiffness Lacrimal duct stenosis Thick lower lip vermilion High palate Ventriculomegaly Pectus excavatum Cleft hard palate Prominent forehead Macrotia Sparse hair Pectus carinatum Carious teeth Muscular hypotonia Chylothorax Broad distal phalanx of finger Wide mouth Wide nasal bridge Hypoplasia of the corpus callosum Hypertonia Long philtrum Obesity Coarse facial features Umbilical hernia Macroglossia Pineal cyst Delayed myelination Small nail Lissencephaly Short chin Cutis marmorata Failure to thrive in infancy Protruding tongue Severe failure to thrive Intrauterine growth retardation Horizontal nystagmus Skull asymmetry Truncus arteriosus Autistic behavior Hypermetropia Attention deficit hyperactivity disorder Stereotypy Self-injurious behavior Obsessive-compulsive behavior Proportionate short stature Uveitis Renal hypoplasia Prominent nose Rhizomelia Restrictive deficit on pulmonary function testing Nystagmus Motor delay Micropenis Autism Facial asymmetry Abnormality of the kidney Periorbital fullness Scoliosis Elliptocytosis Delayed eruption of teeth X-linked recessive inheritance Narrow mouth Pes planus Conductive hearing impairment Nephrotic syndrome Broad forehead Synophrys Flat face Esotropia Midface retrusion Renal dysplasia Dental crowding Nephrocalcinosis Calcinosis Hypercalciuria Finger clinodactyly Severe sensorineural hearing impairment Large forehead Clinodactyly of the 5th finger Malar flattening Cognitive impairment Hyperextensible skin Edema Polyhydramnios Erythema Hyperkeratosis Autoimmunity Leukemia Abnormality of the cardiovascular system Hyperpigmentation of the skin Systemic lupus erythematosus Talipes equinovarus Pleural effusion Abnormality of the sternum Curly hair Acute lymphoblastic leukemia Graves disease Palmoplantar cutis laxa Cataract Anemia Superior pectus carinatum



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