Delayed speech and language development, and Hypospadias
Diseases related with Delayed speech and language development and Hypospadias
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Hypospadias that can help you solving undiagnosed cases.
Top matches:
Low 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
More info about STANKIEWICZ-ISIDOR SYNDROME; STISS
Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12
COXPD12 is an autosomal recessive mitochondrial neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability (summary by Steenweg et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12 Is also known as leukoencephalopathy with thalamus and brainstem involvement and high lactate;ltbl;coxpd12; combined oxidative phosphorylation defect type 12; ltbl
Related symptoms:
- Autosomal recessive inheritance
- Seizures
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
SOURCES: MONDO UMLS GARD ORPHANET OMIM
More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 Is also known as ;
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
SOURCES: ORPHANET OMIM DOID UMLS MONDO
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23
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Other less relevant matches:
Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48 Is also known as ;
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
SOURCES: MONDO UMLS DOID ORPHANET OMIM
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48Low match MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP Is also known as polymicrogyria with seizures;pmgys;
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Short stature
- Pica
SOURCES: MONDO OMIM GARD ORPHANET
More info about MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSPLow match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2
Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2
Low match ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE
Related symptoms:
- Intellectual disability
- Global developmental delay
- Scoliosis
- Cryptorchidism
- Depressed nasal bridge
SOURCES: ORPHANET
More info about ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCELow match ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2
Acrodysostosis-2 is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012).For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (OMIM ).
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Global developmental delay
- Short stature
- Pica
More info about ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2
Low match MEIER-GORLIN SYNDROME 3; MGORS3
Related symptoms:
- Autosomal recessive inheritance
- Short stature
- Microcephaly
- Growth delay
- Micrognathia
More info about MEIER-GORLIN SYNDROME 3; MGORS3
Low match 6Q TERMINAL DELETION SYNDROME
6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.
Related symptoms:
- Seizures
- Global developmental delay
- Scoliosis
- Hypertelorism
- Nystagmus
SOURCES: ORPHANET
More info about 6Q TERMINAL DELETION SYNDROMETop 5 symptoms//phenotypes associated to Delayed speech and language development and Hypospadias
| Symptoms // Phenotype | % cases |
|---|---|
| Global developmental delay | Common - Between 50% and 80% cases |
| Cryptorchidism | Common - Between 50% and 80% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
| Microcephaly | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Delayed speech and language development and Hypospadias. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Motor delay Anteverted nares Micrognathia Growth delay Autosomal dominant inheritance Short stature Intrauterine growth retardation Hypoplasia of the corpus callosum Failure to thrive Pica Autism Generalized hypotonia Hearing impairment Hypertelorism Obesity Cerebellar hypoplasia Mild short stature Feeding difficulties Visual impairment Absent speech Polymicrogyria Strabismus Scoliosis Midface retrusion Autosomal recessive inheritance Depressed nasal bridge Wide nasal bridge Abnormal facial shape
Rare Symptoms - Less than 30% cases
Short palpebral fissure Heterotopia Abnormality of the pinna Prominent nasal bridge Highly arched eyebrow Eczema Hypoplasia of the maxilla Macrocephaly Red hair Fair hair Cone-shaped epiphysis Blue irides Downslanted palpebral fissures Mandibular prognathia Microtia Hyperactivity Round face Narrow mouth Malar flattening Posteriorly rotated ears Short metacarpal Short neck Brachydactyly Spinal canal stenosis Epicanthus Low-set ears Poor speech Periventricular gray matter heterotopia Accelerated skeletal maturation Short metatarsal Wide intermamillary distance Increased intracranial pressure Diabetes mellitus Congenital hypothyroidism Short phalanx of finger Low anterior hairline Upslanted palpebral fissure Abnormality of the skeletal system Nystagmus Micropenis Cleft palate Spasticity Abnormality of the cerebral white matter Tetraparesis Spastic tetraparesis Scrotal hypoplasia Broad neck Joint laxity Growth hormone deficiency Dysmetria Short toe Hypermetropia Dolichocephaly Hypocalcemia Low-set, posteriorly rotated ears Hyperkeratosis Thick vermilion border Gait ataxia Coxa valga Prominent forehead Clinodactyly Intellectual disability, mild Absent sternal ossification Birth length less than 3rd percentile High, narrow palate Hypsarrhythmia Elevated circulating parathyroid hormone level Prominent metopic ridge Genu varum Ureterocele Aplasia/Hypoplasia of the ribs Laryngomalacia Talipes calcaneovalgus Colpocephaly Broad philtrum Hallux valgus Gynecomastia Hypogonadism Abnormality of neuronal migration Infantile muscular hypotonia Phimosis Plagiocephaly Coxa vara Microretrognathia Specific learning disability Hyperphosphatemia Pseudohypoparathyroidism Thick lower lip vermilion Talipes equinovarus Severe postnatal growth retardation Tracheomalacia Type I diabetes mellitus Rhinitis Chronic rhinitis Slender long bone Thyroid hormone receptor defect Thoracic hypoplasia Patellar aplasia Recurrent pneumonia Delayed skeletal maturation Gastroesophageal reflux Short thorax Dyspnea Narrow chest Triangular face Calvarial skull defect Breast hypoplasia Short ribs Congenital craniofacial dysostosis Hypoplastic vertebral bodies Elevated calcitonin Cerebral venous thrombosis Clitoral hypertrophy Hypoplasia of the nasal bone Bronchomalacia Absent/hypoplastic paranasal sinuses Growth abnormality Asthma Hypertension Short nose Congenital onset Hypothyroidism Acrania Aplasia/Hypoplasia of the patella Small hand Underdeveloped nasal alae Narrow vertebral interpedicular distance Duodenal atresia Overfolded helix Long philtrum Cholestasis Leukoencephalopathy Ragged-red muscle fibers Macrovesicular hepatic steatosis Dysplastic corpus callosum Decreased activity of mitochondrial complex I Decreased activity of mitochondrial complex IV Decreased activity of mitochondrial complex III Myopia Kyphosis Increased serum lactate Brachycephaly Thin upper lip vermilion Hyperlordosis Synophrys Smooth philtrum Downturned corners of mouth Astigmatism Dental crowding Drooling Obsessive-compulsive behavior Bradykinesia Hepatic steatosis Impaired mastication Hepatomegaly Patent ductus arteriosus Retrognathia Abnormal cardiac septum morphology Facial asymmetry Abnormality of the kidney Prominent nose Cortical visual impairment Horizontal nystagmus Pineal cyst Ptosis Infantile onset Ophthalmoplegia Dystonia Encephalopathy Pneumonia Acidosis Abnormality of the genital system Elevated hepatic transaminase Neonatal hypotonia Developmental regression Irritability Lactic acidosis Slender finger Sensorineural hearing impairment Microdontia Abnormality of the spinal cord Lissencephaly Ectopic kidney Unilateral renal agenesis Multiple joint contractures Severe failure to thrive Cardiorespiratory arrest Respiratory arrest Abnormal corpus callosum morphology Gray matter heterotopias Short corpus callosum Sloping forehead Microphthalmia Pectus excavatum Osteopenia Pes planus Blepharophimosis Carious teeth Short palm Flat face Tapered finger Microcornea Pachygyria Craniosynostosis Muscular hypotonia Dilation of lateral ventricles Ventriculomegaly Behavioral abnormality Recurrent infections Oxycephaly Feeding difficulties in infancy Open mouth Cerebellar vermis hypoplasia Stereotypy Long palpebral fissure Enlarged cisterna magna Cerebellar dysplasia Abnormal pyramidal sign Dilated fourth ventricle Dysgenesis of the cerebellar vermis Flexion contracture Dysarthria Intellectual disability, severe Cerebellar atrophy Agenesis of corpus callosum Severe short stature EEG abnormality Intellectual disability, moderate Abnormality of the cerebral cortex
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