Delayed speech and language development, and Renal agenesis

Diseases related with Delayed speech and language development and Renal agenesis

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


Top matches:

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Medium match CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB

The deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene (OMIM ), is associated with a highly penetrant form of isolated severe early-onset obesity as well as obesity with developmental delay (summary by Bachmann-Gagescu et al., 2010).An extended 1.7-Mb deletion of chromosome 16p11.2 containing both the 220-kb region and the proximal 593-kb region associated autism (see {611913}) has been reported in 2 patients with a syndrome of autism, mental retardation, and obesity and in 2 patients with pervasive developmental disorder, auditory processing difficulties, and attention deficit-hyperactivity disorder but not obesity.For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see {606641}.

CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB Is also known as ;distal del(16)(p11.2); distal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis


SOURCES: OMIM DOID MONDO ORPHANET UMLS

More info about CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB

Medium 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; MSSP

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Other less relevant matches:

Medium match LAMB-SHAFFER SYNDROME; LAMSHF

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

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


SOURCES: UMLS OMIM

More info about LAMB-SHAFFER SYNDROME; LAMSHF

Medium match DUPLICATION/INVERSION 15Q11

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15); isodicentric 15 chromosome; non-distal tetrasomy 15q; non-telomeric tetrasomy 15q; idic(15)

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Strabismus


SOURCES: MONDO UMLS ORPHANET MESH GARD

More info about DUPLICATION/INVERSION 15Q11

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 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as door syndrome, digitorenocerebral syndrome, drc syndrome, brachydactyly due to absence of distal phalanges, eronen syndrome

Related symptoms:

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


SOURCES: MONDO OMIM GARD MESH

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

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

Medium match OROFACIODIGITAL SYNDROME VI; OFD6

Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014).

OROFACIODIGITAL SYNDROME VI; OFD6 Is also known as oral-facial-digital syndrome, type vi, ofds vi, varadi-papp syndrome, varadi syndrome, polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation;joubert syndrome with oral-facial-digital syndrome; joubert syndrome with orofaciodigital defect; ofd6; oral-facial-digital syndrome type 6; polydactyly-cleft lip/palate-psychomotor retardation syndrome; váradi syndrome; váradi-papp syndrome

Related symptoms:

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


SOURCES: SCTID UMLS OMIM ORPHANET

More info about OROFACIODIGITAL SYNDROME VI; OFD6

Medium match CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB Is also known as ;proximal del(16)(p11.2); proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET NCIT MONDO SCTID MESH GARD

More info about CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Unilateral renal agenesis 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 Renal agenesis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Cryptorchidism Pica Epicanthus Downslanted palpebral fissures Hypertelorism Short stature Feeding difficulties Depressed nasal bridge Absent speech Hearing impairment Microcephaly Growth delay Abnormal facial shape Wide nasal bridge Micrognathia Brachydactyly High palate Highly arched eyebrow Low-set ears Frontal bossing Myopia Agenesis of corpus callosum High forehead Intellectual disability, severe Retrognathia Posteriorly rotated ears Facial asymmetry Motor delay Optic atrophy Scoliosis Strabismus Hernia Ptosis Bilateral sensorineural hearing impairment Autism Muscular hypotonia Intellectual disability, moderate Abnormal heart morphology Dilatation Hyperactivity Autistic behavior

Rare Symptoms - Less than 30% cases


Wide mouth Severe expressive language delay Long fingers Macrocephaly Pointed chin Stereotypy Dental crowding Bulbous nose Cleft palate Pes planus Ventricular septal defect Long face Clinodactyly Abnormality of the nervous system Nystagmus Behavioral abnormality Coloboma Oxycephaly Dandy-Walker malformation Congestive heart failure Microphthalmia Coarse facial features Esotropia Talipes equinovarus Sensorineural hearing impairment Inguinal hernia Nail dystrophy Micropenis Hydronephrosis Renal hypoplasia/aplasia Language impairment Aortic regurgitation Aplasia/Hypoplasia of the corpus callosum Intellectual disability, mild Short toe Abnormality of the genital system Clinodactyly of the 5th finger Polydactyly Cerebral atrophy Malar flattening Cataract Anteverted nares Renal cyst Broad nasal tip Long philtrum Hand polydactyly Low-set, posteriorly rotated ears Small nail Atrial septal defect Ventriculomegaly Autosomal dominant inheritance Obesity Failure to thrive Spasticity Intrauterine growth retardation EEG abnormality Abnormality of the kidney Attention deficit hyperactivity disorder Prominent nasal bridge Constipation Neonatal hypotonia Thin upper lip vermilion Smooth philtrum Anxiety Upslanted palpebral fissure Bilateral ptosis Genu varum Relative macrocephaly Ectopia lentis Abnormality of the skeletal system Retinal coloboma Congenital nystagmus Profound global developmental delay Neurogenic bladder Anophthalmia Hypoplasia of teeth Colpocephaly Lop ear Short upper lip Aortic aneurysm Scleral staphyloma Short 2nd toe Posterior staphyloma Phimosis Ataxia Narrow palpebral fissure Pyloric stenosis Gait disturbance Fever Tremor Hypoplasia of the corpus callosum Long nose Abnormal palate morphology Chorioretinal coloboma Severe intrauterine growth retardation Pulmonary artery atresia Gait ataxia Telecanthus Mental deterioration Optic nerve coloboma Hip dislocation Dolichocephaly Joint hyperflexibility Corneal opacity Severe combined immunodeficiency Hydrocele testis Multiple renal cysts Contiguous gene syndrome Iris coloboma Widely-spaced maxillary central incisors Microcornea Convex nasal ridge Patent ductus arteriosus Thick lower lip vermilion Arnold-Chiari type I malformation Progressive visual loss Missing ribs Intellectual disability, profound Syringomyelia Syndactyly Chorioretinitis Absent nasal bridge Combined immunodeficiency Microretrognathia Congenital diaphragmatic hernia Hemivertebrae Abnormal retinal morphology Preaxial foot polydactyly Short neck Short femur Respiratory insufficiency Short nose Meningocele Biparietal narrowing Adactyly Abnormality of neuronal migration Partial agenesis of the corpus callosum Molar tooth sign on MRI Bilateral cryptorchidism Preaxial polydactyly Tibial bowing Hypertension Accessory oral frenulum Tachypnea Hypothalamic hamartoma Bulimia Occipital meningocele Cerebellar malformation Mesoaxial hand polydactyly Hypoplasia of olfactory tract Midline notch of upper alveolar ridge Tongue nodules Abnormal oral frenulum morphology Mesoaxial polydactyly Central Y-shaped metacarpal Cognitive impairment Hamartoma of tongue Lobulated tongue Nevus Hamartoma Polycystic kidney dysplasia Psychosis Ranula Postaxial polydactyly Acrania Flat face Cleft lip Cleft upper lip Toe syndactyly Apnea Apraxia Tapered finger Feeding difficulties in infancy Small hand Conductive hearing impairment Underdeveloped nasal alae Episodic tachypnea Abnormal cerebellum morphology Talipes Preaxial hand polydactyly Blepharophimosis Midface retrusion Immunodeficiency Recurrent infections Macrotia Gastroesophageal reflux Abnormality of the pinna Broad forehead Cerebellar vermis hypoplasia Radial deviation of finger Trigonocephaly Finger clinodactyly Oculomotor apraxia Pruritus Renal dysplasia Foot polydactyly Urethral stenosis Infantile onset Abnormal corpus callosum morphology Hyperlordosis Kyphoscoliosis Short corpus callosum Abnormality of the spinal cord Gray matter heterotopias Periventricular gray matter heterotopia Respiratory arrest Lumbar hyperlordosis Cardiorespiratory arrest Duodenal atresia Severe failure to thrive Mild short stature Multiple joint contractures Ectopic kidney Lissencephaly Pectus carinatum Open mouth Heterotopia Maternal diabetes Mild myopia Expressive language delay Ureteral stenosis Thoracic kyphoscoliosis Hyperplasia of the maxilla Long hallux Small face Mitral regurgitation Tracheomalacia Disproportionate tall stature Overlapping toe Optic nerve hypoplasia Narrow palate Clumsiness Exotropia Spastic tetraparesis Pachygyria Vertebral clefting Kyphosis Retinal dystrophy Arachnodactyly Proteinuria Headache Narrow mouth Rod-cone dystrophy Obsessive-compulsive trait Migraine Hyperparathyroidism Calcinosis Nephrocalcinosis Generalized seizures Focal seizures Triangular face Thin vermilion border Vesicoureteral reflux Aganglionic megacolon Tetraparesis Hypospadias Sloping forehead Poor speech Polymicrogyria Craniosynostosis Abnormal pyramidal sign Severe short stature Cerebellar hypoplasia Cerebellar atrophy Low anterior hairline Dysarthria Flexion contracture Moderate receptive language delay Oval face Chronic constipation Hyperuricemia Chronic kidney disease Hypoplastic helices Laryngotracheomalacia Visual impairment Pancreatic aplasia Recurrent respiratory infections Hyporeflexia Respiratory distress Arrhythmia Blindness Peripheral neuropathy Ureteral atresia Respiratory tract infection Aplasia of the vagina Abnormality of upper lip Hypoplasia of the bladder Subcortical cerebral atrophy Ureterocele Long toe Hyperconvex nail Progressive Short distal phalanx of finger Upper limb undergrowth Triphalangeal thumb Profound sensorineural hearing impairment Prominent nasal tip Cystic renal dysplasia Severe sensorineural hearing impairment Hypoplasia of the iris Infantile spasms Anonychia Abnormality of the fingernails Downturned corners of mouth Short phalanx of finger Hypsarrhythmia High myopia Prominent nose Nail dysplasia Abnormality of the skin Everted lower lip vermilion Aplasia of the uterus Ovarian cyst Brachycephaly Precocious puberty Self-biting Abnormality of brain morphology Neurodevelopmental delay Echolalia Gonadal dysgenesis 2-3 toe syndactyly Drooling Renal insufficiency Tetralogy of Fallot Joint hypermobility Synophrys Deeply set eye Short philtrum Aggressive behavior Hypogonadism Severe receptive language delay Diabetes mellitus Shawl scrotum Large fontanelles Focal seizures with impairment of consciousness or awareness Schizophrenia Multicystic kidney dysplasia Horizontal nystagmus Recurrent urinary tract infections Hypertrichosis Sparse and thin eyebrow Stage 5 chronic kidney disease Mandibular prognathia Oligohydramnios Renal hypoplasia Short foot Hypermetropia Short palm Protruding ear Elevated hepatic transaminase Short 5th toe



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