Delayed speech and language development, and Hydronephrosis

Diseases related with Delayed speech and language development and Hydronephrosis

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


Top matches:

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 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

gene (13q13.1), which encodes the protein spartin.

SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 Is also known as troyer syndrome, spastic paraparesis, childhood-onset, with distal muscle wasting, spastic paraplegia, autosomal recessive, troyer type;childhood-onset spastic paraparesis-distal muscle wasting syndrome; spg20; troyer syndrome

Related symptoms:

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


SOURCES: DOID ORPHANET MESH GARD OMIM MONDO SCTID UMLS

More info about SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

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

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Other less relevant matches:

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

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1

Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1 Is also known as mabry syndrome, glycosylphosphatidylinositol biosynthesis defect 2;gpibd2;mabry syndrome

Related symptoms:

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


SOURCES: ORPHANET SCTID OMIM UMLS MONDO

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1

Medium match CHROMOSOME 22q11.2 DUPLICATION SYNDROME

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

CHROMOSOME 22q11.2 DUPLICATION SYNDROME Is also known as chromosome 22q11.2 microduplication syndrome;dup(22)(q11); duplication 22q11.2; trisomy 22q11.2

Related symptoms:

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


SOURCES: DOID MONDO ORPHANET GARD OMIM UMLS MESH SCTID

More info about CHROMOSOME 22q11.2 DUPLICATION SYNDROME

Medium match CHROMOSOME 13q14 DELETION SYNDROME

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

CHROMOSOME 13q14 DELETION SYNDROME Is also known as chromosome 13q deletion syndrome;del(13)(q14); deletion 13q14

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: MONDO UMLS MESH NCIT ORPHANET OMIM DOID

More info about CHROMOSOME 13q14 DELETION SYNDROME

Medium match MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F

Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F Is also known as ;x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: MONDO ORPHANET UMLS OMIM

More info about MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F

Medium match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL Is also known as ;haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica
  • Failure to thrive


SOURCES: ORPHANET SCTID MESH GARD OMIM UMLS MONDO NCIT

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Medium match TEMTAMY SYNDROME; TEMTYS

Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).

TEMTAMY SYNDROME; TEMTYS Is also known as mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum;craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome; temtamy-shalash syndrome

Related symptoms:

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


SOURCES: SCTID GARD MESH UMLS ORPHANET NCIT OMIM MONDO

More info about TEMTAMY SYNDROME; TEMTYS

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature 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 Hydronephrosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect

Common Symptoms - More than 50% cases


Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Pica Cleft palate Thin upper lip vermilion Intellectual disability, severe Atrial septal defect Brachydactyly Growth delay Hypertelorism Microcephaly Micrognathia Epicanthus Depressed nasal bridge Ptosis Nephrotic syndrome Cryptorchidism Autosomal dominant inheritance Cataract Scoliosis Patent ductus arteriosus Hypoplasia of the corpus callosum Hip dislocation Strabismus Muscular hypotonia Long philtrum Wide nasal bridge Macrocephaly Highly arched eyebrow Malar flattening Behavioral abnormality Mandibular prognathia Facial asymmetry Autism High forehead Short foot Frontal bossing High palate Abnormal heart morphology Absent speech Posteriorly rotated ears Abnormality of cardiovascular system morphology Sensorineural hearing impairment Feeding difficulties Oxycephaly Spasticity Autosomal recessive inheritance Iris coloboma Motor delay Midface retrusion Clinodactyly of the 5th finger Microphthalmia Abnormality of the genital system Clinodactyly Sporadic Coloboma Ventriculomegaly

Rare Symptoms - Less than 30% cases


Prominent nasal bridge Downturned corners of mouth Poor speech Anal atresia Broad nasal tip Narrow forehead Plagiocephaly Laryngomalacia Intellectual disability, profound Retrognathia Interrupted aortic arch Neurological speech impairment Smooth philtrum Abnormality of the dentition Hypotelorism Prominent forehead Optic atrophy Bulbous nose Visual impairment Dolichocephaly Abnormality of the genitourinary system Muscle stiffness Thickened helices Failure to thrive Hypertrichosis Upslanted palpebral fissure Short nose Hydrocephalus Cerebellar hypoplasia Tapered finger Urethral stenosis Dandy-Walker malformation Sacral dimple Unilateral renal agenesis Agenesis of corpus callosum Small nail Chorioretinal coloboma Bilateral sensorineural hearing impairment Corneal opacity Myopia Hypermetropia Short toe Protruding ear Absent septum pellucidum Retinal coloboma Coarse facial features Profound global developmental delay Cerebral atrophy Subcortical cerebral atrophy Respiratory distress Patent foramen ovale Abnormality of the skeletal system Specific learning disability Finger clinodactyly Pes cavus Dental crowding Renal dysplasia Esotropia Bifid uvula Joint hypermobility Thin vermilion border Broad forehead Pes planus Anxiety Prominent nose Short neck Gait ataxia Intellectual disability, mild Constipation Talipes equinovarus Recurrent respiratory infections Progressive visual loss Aplasia/Hypoplasia of the corpus callosum Intellectual disability, moderate Astigmatism Aortic regurgitation Abnormal palate morphology Short 5th toe Leukocoria X-linked dominant inheritance Choanal atresia Aortic aneurysm Short palpebral fissure Small hand Brachycephaly Polydactyly Thick lower lip vermilion Joint laxity Respiratory tract infection Hip dysplasia Renal agenesis Anteverted ears Microcornea Long face Joint hyperflexibility Mental deterioration Telecanthus Postaxial polydactyly Convex nasal ridge Hypoplasia of the iris Retinoblastoma Hernia Short upper lip Lop ear Finger syndactyly Wide mouth Muscular hypotonia of the trunk Micropenis Inguinal hernia Thick eyebrow Scleral staphyloma Short 2nd toe Intrauterine growth retardation Bilateral trilobed lungs Subependymal cysts Anterior creases of earlobe Colpocephaly Hypoplasia of teeth Abnormality of the gastrointestinal tract Holoprosencephaly Aplasia/Hypoplasia of the thumb Genu varum Relative macrocephaly Ectopia lentis Supernumerary nipple Trigonocephaly Deep philtrum Everted lower lip vermilion Abnormal dermatoglyphics Wide anterior fontanel Open mouth Congenital nystagmus Neurogenic bladder Webbed neck Single transverse palmar crease Dilatation Flared nostrils Lower limb asymmetry Lipoma Hamartoma Peripheral pulmonary artery stenosis Persistent left superior vena cava Subvalvular aortic stenosis Bone cyst Porencephalic cyst Aplasia cutis congenita of scalp Hemiplegia Skin tags Lipodystrophy Mutism Visceral angiomatosis Hemangioma Abnormal aortic morphology Abnormal anterior chamber morphology Subcutaneous lipoma Hemihypertrophy Ectopia pupillae Abnormal nasolacrimal system morphology Aphasia Abnormality of the skull Eyelid coloboma Glioma Abnormality of the eyelashes Arachnoid cyst Aplasia cutis congenita Cortical dysplasia Dysphasia Astrocytoma Multiple lipomas Abnormal eyelid morphology Sclerocornea Echolalia Dysostosis multiplex Xanthomatosis Nevus flammeus Craniofacial hyperostosis Osteolysis Hemiparesis Abnormal cortical gyration Congestive heart failure Lipomas of the central neryous system Papule Nystagmus Infantile onset Retinopathy Skeletal dysplasia Rigidity Alopecia Acrania Cerebral cortical atrophy Hypertonia Nevus Neoplasm Unilateral breast hypoplasia Abnormality of thyroid physiology Capillary hemangioma Abnormal cartilage morphology Cerebral calcification Aortic valve stenosis Hemiatrophy Abnormality of the face Tricuspid valve prolapse Alopecia areata Pulmonary arterial hypertension Subcutaneous nodule Coarctation of aorta Epibulbar dermoid Somatic mosaicism Linear hyperpigmentation Scarring Chorioretinitis Paralysis Pelvic kidney Neoplasm of the skeletal system Tetraplegia Neurodevelopmental abnormality Osteochondrosis Aplasia/Hypoplasia of the thymus Autistic behavior Displacement of the external urethral meatus Impaired vibratory sensation Upper limb muscle weakness Scleroderma Premature loss of teeth Cerebellar vermis atrophy Ankle clonus Slurred speech Spastic diplegia Hammertoe Abnormality of the thumb Emotional lability Abnormality of the hand Drooling Hoarse voice Childhood onset Spastic paraparesis Hallucinations Overgrowth Dysuria Spastic dysarthria Spastic gait Suicidal ideation Abnormal cardiac septum morphology Craniosynostosis Low-set, posteriorly rotated ears Neonatal hypotonia Gastroesophageal reflux Dystonia Hyperextensible hand joints Morphea Speech apraxia Hyperplasia of midface Panic attack Knee clonus Abnormality of brain morphology Abnormal hand morphology Abnormality of the nares Overbite Upper limb spasticity Lower limb spasticity Psychosis Cortical visual impairment Calcinosis Muscle weakness Cleft hard palate Broad distal phalanx of finger Elliptocytosis Large forehead Severe sensorineural hearing impairment Hypercalciuria Nephrocalcinosis Flexion contracture Delayed eruption of teeth Flat face Talipes Synophrys Conductive hearing impairment Narrow mouth X-linked recessive inheritance Anemia Cognitive impairment Hyperreflexia Abnormal cerebellum morphology Spastic paraplegia Sleep disturbance Gliosis Paraplegia Dysmetria Distal amyotrophy Abnormality of the foot Lower limb muscle weakness Genu valgum Camptodactyly Dysarthria Difficulty walking Clonus Kyphoscoliosis Babinski sign Pectus excavatum Cerebellar atrophy Dysphagia Skeletal muscle atrophy Intestinal malrotation Abnormal lung morphology Common atrium Rectovestibular fistula Thick vermilion border Wide nose Attention deficit hyperactivity disorder Apnea Abnormality of the pinna Tics Milia Shortening of all distal phalanges of the fingers Tetralogy of Fallot Delayed ossification of carpal bones Abnormally large globe Anteriorly placed anus Long palpebral fissure Cupped ear Tented upper lip vermilion Elevated alkaline phosphatase Aganglionic megacolon Gastrointestinal hemorrhage Depressed nasal ridge Sparse scalp hair Transposition of the great arteries Velopharyngeal insufficiency Heterotaxy Total anomalous pulmonary venous return Abdominal situs inversus Anomalous pulmonary venous return Abnormality of the pharynx Double outlet right ventricle Dyslexia Intestinal bleeding Narrow face Stridor Hypoplastic left heart Abnormality of immune system physiology Obsessive-compulsive behavior Sleep apnea Nasal speech Stereotypy Situs inversus totalis Inability to walk Short distal phalanx of finger Microretrognathia Renal hypoplasia Multicystic kidney dysplasia Horizontal nystagmus Recurrent urinary tract infections Sparse and thin eyebrow Large fontanelles Stage 5 chronic kidney disease Oligohydramnios Short palm Schizophrenia Nail dystrophy Elevated hepatic transaminase Diabetes mellitus Renal insufficiency Lacrimal duct stenosis Chronic lung disease Neonatal respiratory distress Preauricular pit Renal hypoplasia/aplasia Focal seizures with impairment of consciousness or awareness Cleft upper lip Abnormality of upper lip Cleft lip Abnormality of the liver Severe global developmental delay Short philtrum Abnormality of the nervous system Pancreatic aplasia Ureteral atresia Aplasia of the vagina Hypoplasia of the bladder Language impairment Ureterocele Long toe Hyperconvex nail Aplasia of the uterus Upper limb undergrowth Ovarian cyst Shawl scrotum Long fingers Posterior staphyloma


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