Delayed speech and language development, and Spina bifida

Diseases related with Delayed speech and language development and Spina bifida

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


Top matches:

Low 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

Low match JOUBERT SYNDROME 14; JBTS14

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Hypertelorism


SOURCES: DOID UMLS OMIM MONDO

More info about JOUBERT SYNDROME 14; JBTS14

Low match JOUBERT SYNDROME 1; JBTS1

Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as joubert syndrome;jbts, joubert-boltshauser syndrome, cerebelloparenchymal disorder iv;cpd4, cerebellooculorenal syndrome 1;cors1;cpd iv; cerebelloparenchymal disorder iv; classic joubert syndrome; joubert syndrome type a; joubert-boltshauser syndrome; pure joubert syndrome

Related symptoms:

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


SOURCES: OMIM SCTID MONDO ORPHANET DOID

More info about JOUBERT SYNDROME 1; JBTS1

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Other less relevant matches:

Low match JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd; joubert syndrome with jatd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET

More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Low 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

Low match JOUBERT SYNDROME 17; JBTS17

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Motor delay


SOURCES: OMIM UMLS

More info about JOUBERT SYNDROME 17; JBTS17

Low match MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM

MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM Is also known as ;mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica
  • Hypertelorism


SOURCES: MONDO ORPHANET OMIM UMLS

More info about MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM

Low match VELOCARDIOFACIAL SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome, vcf syndrome;vcfs, shprintzen vcf syndrome

Related symptoms:

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


SOURCES: OMIM

More info about VELOCARDIOFACIAL SYNDROME

Low match CRANIOSYNOSTOSIS 6; CRS6

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

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


SOURCES: MONDO OMIM UMLS

More info about CRANIOSYNOSTOSIS 6; CRS6

Low match FLOATING-HARBOR SYNDROME; FLHS

Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips (Lacombe et al., 1995).Rubinstein-Taybi syndrome (see {180849}), which shows phenotypic overlap with Floating-Harbor syndrome, is caused by mutation in the CREBBP gene (OMIM ), for which SRCAP is a coactivator.

FLOATING-HARBOR SYNDROME; FLHS Is also known as ;

Related symptoms:

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


SOURCES: MONDO SCTID MESH ORPHANET GARD UMLS OMIM

More info about FLOATING-HARBOR SYNDROME; FLHS

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Pica Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Short stature Epicanthus Meningocele Absent speech Dandy-Walker malformation Molar tooth sign on MRI Strabismus Prominent nasal bridge Ataxia Seizures Autosomal recessive inheritance Postaxial polydactyly Renal cyst Low-set ears Polydactyly Apraxia Cerebellar vermis hypoplasia Posteriorly rotated ears Cognitive impairment Oculomotor apraxia Micrognathia Microcephaly Scoliosis Growth delay Renal dysplasia Nevus Dilatation Hyperactivity Hypoplasia of the corpus callosum Feeding difficulties in infancy Wide nasal bridge Cryptorchidism Occipital encephalocele Tachypnea Motor delay Highly arched eyebrow Open mouth Hearing impairment Hydrocephalus Intellectual disability, severe Apnea Conductive hearing impairment Spina bifida occulta Hypospadias Muscular hypotonia Myelomeningocele Brachydactyly Tics Inguinal hernia Gait disturbance Nystagmus Ptosis Autosomal dominant inheritance

Rare Symptoms - Less than 30% cases


Abnormality of eye movement Downturned corners of mouth Abnormality of the hand Intellectual disability, mild Long face Hypothyroidism Intellectual disability, moderate Retinal dystrophy Nasal speech Episodic tachypnea Hand polydactyly Trigonocephaly Cleft palate Fever Hernia Syndactyly Agenesis of corpus callosum Clinodactyly Abnormal heart morphology Broad nasal tip Renal agenesis Finger clinodactyly Abnormal cerebellum morphology Aplasia/Hypoplasia of the corpus callosum Low-set, posteriorly rotated ears Ventriculomegaly Frontal bossing Failure to thrive Dysgenesis of the cerebellar vermis Elongated superior cerebellar peduncle Foot polydactyly Biparietal narrowing Abnormality of neuronal migration Hypoplasia of the brainstem Abnormality of the eye Telecanthus Aggressive behavior Short neck Umbilical hernia Deeply set eye Coloboma Short philtrum High forehead Abnormality of the kidney Vesicoureteral reflux Cephalocele Atrial septal defect Hypertension Underdeveloped nasal alae Cerebellar atrophy Abnormality of cardiovascular system morphology Low posterior hairline Encephalocele Arthritis Abnormality of the nervous system Renal insufficiency Mandibular prognathia Cerebellar hypoplasia Tremor Anteverted nares Milia Hyperechogenic kidneys Breathing dysregulation Retinal coloboma Bulbous nose Thin upper lip vermilion Chorea Amenorrhea Velopharyngeal insufficiency Perseveration Specific learning disability Echolalia Truncus arteriosus Abnormality of the endocrine system Pulmonary artery atresia Platybasia Perimembranous ventricular septal defect Bifid uvula Conotruncal defect Hemolytic anemia Posterior embryotoxon Dysmetria Graves disease Cystic renal dysplasia Seborrheic dermatitis Juvenile rheumatoid arthritis Giant platelets Aplasia of the uterus Pulmonic stenosis Interrupted aortic arch Tetralogy of Fallot Abnormality of the larynx Axonal loss Vitiligo Arnold-Chiari malformation Psychosis Anal stenosis Primary amenorrhea Apathy Cholelithiasis Hallucinations Schizophrenia Myopathic facies Dysdiadochokinesis Multicystic kidney dysplasia Hypocalcemia Narrow palpebral fissure Bicuspid aortic valve Purpura Holoprosencephaly Acne Abnormality of the ear Delusions Peripheral demyelination Bipolar affective disorder Hearing abnormality Pierre-Robin sequence Paranoia Autoimmune thrombocytopenia Submucous cleft hard palate Autoimmune hemolytic anemia Psoriasiform dermatitis Basal ganglia calcification Abnormality of the vasculature Inflammation of the large intestine Obsessive-compulsive behavior Hypoparathyroidism Rheumatoid arthritis Unilateral renal agenesis Right aortic arch Neurological speech impairment Mood swings Nephrocalcinosis Abnormality of the clavicle Sprengel anomaly Proportionate short stature High pitched voice Language impairment Lipoma Preauricular pit Abnormality of the voice Abnormality of the fingernails Long eyelashes Glioma Generalized hirsutism Short thumb Recurrent otitis media Coarctation of aorta Broad thumb Otitis media Short palpebral fissure Hypoplasia of penis Prominent nose Short clavicles Cone-shaped epiphyses of the phalanges of the hand Hirsutism Tethered cord Congenital posterior urethral valve Abnormal soft palate morphology Generalized cerebral atrophy/hypoplasia Epididymal cyst Enlarged naris Varicocele Persistent left superior vena cava Congenital pseudoarthrosis of the clavicle Expressive language delay Spinal dysraphism Celiac disease Stiff neck Short upper lip Broad columella Hyperextensibility of the finger joints Auricular pit Enlarged joints Villous atrophy Short columella Enuresis Small hand Hypoplasia of the maxilla Duodenal stenosis Right aortic arch with mirror image branching Turricephaly Delayed cranial suture closure Plagiocephaly Low anterior hairline Craniosynostosis Brachycephaly Sensorineural hearing impairment Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Anterior plagiocephaly Sacral meningocele Vascular ring Arteria lusoria Perineal fistula Central nervous system degeneration Aplasia of the thymus Psychotic episodes Impaired T cell function Retinal vascular tortuosity Coronal craniosynostosis Neoplasm Triangular face Camptodactyly of finger Hypermetropia Malabsorption Thin vermilion border Smooth philtrum Joint hyperflexibility Congenital cataract Postnatal growth retardation Wide mouth Joint stiffness Joint laxity Hyperreflexia Hydronephrosis Headache Constipation Upslanted palpebral fissure Babinski sign Delayed skeletal maturation Clinodactyly of the 5th finger Vomiting Intrauterine growth retardation Autoimmunity Bilateral cryptorchidism Anal atresia Abnormality of ocular smooth pursuit Depressed nasal bridge Triangular-shaped open mouth Occipital myelomeningocele Hemifacial spasm Enlarged fossa interpeduncularis Brainstem dysplasia Neonatal breathing dysregulation Meningoencephalocele Myopia Abnormal saccadic eye movements Abnormal pattern of respiration Agenesis of cerebellar vermis Abnormality of the hypothalamus-pituitary axis Central apnea Self-mutilation Optic nerve coloboma Impaired smooth pursuit Feeding difficulties Recurrent respiratory infections Protruding tongue Absent septum pellucidum Colpocephaly Abnormal corpus callosum morphology Redundant neck skin Chronic lung disease Enlarged cisterna magna Dilation of lateral ventricles Bell-shaped thorax Thoracic hypoplasia Visual loss Cone-shaped epiphysis Supernumerary nipple Overfolded helix Increased intracranial pressure Short ribs Wide intermamillary distance Gastroesophageal reflux Elevated hepatic transaminase Retinal dysplasia Chorioretinal coloboma Renal cortical cysts Abnormality of the urinary system Malar flattening Downslanted palpebral fissures Decreased numbers of nephrons Bifid ureter Urethral valve Ectopic kidney Chronic kidney disease Deep philtrum Pneumonia Horseshoe kidney Narrow face Renal hypoplasia Oligohydramnios Autistic behavior Abnormal cardiac septum morphology Autism Polyhydramnios Microphthalmia Irritability Situs inversus totalis Macroglossia Hepatic fibrosis Heterotopia Aganglionic megacolon Abnormal form of the vertebral bodies Narrow forehead Oral cleft Postaxial hand polydactyly Abnormality of skin pigmentation Tented upper lip vermilion Iris coloboma Polymicrogyria Abnormality of the foot Prominent forehead Heterogeneous Macrocephaly Morning glory anomaly Multiple renal cysts Abnormality of the basal ganglia Long clavicles Blepharophimosis Hyperventilation Delayed puberty Synophrys X-linked inheritance Coarse facial features Severe short stature Long philtrum Intermittent hyperventilation Central Y-shaped metacarpal Aspiration Midline notch of upper alveolar ridge Hypoplasia of olfactory tract Mesoaxial hand polydactyly Cerebellar malformation Occipital meningocele Bulimia Hypothalamic hamartoma Tongue nodules Growth hormone deficiency Adrenal insufficiency Hamartoma of tongue Depressivity Mental deterioration Anxiety Abnormality of the pinna Dementia Retrognathia Recurrent infections Immunodeficiency Obesity Hypopituitarism Patent ductus arteriosus Thrombocytopenia Behavioral abnormality Ventricular septal defect Anemia Cataract Pituitary dwarfism Panhypopituitarism Mesoaxial polydactyly Lobulated tongue Duane anomaly Small cervical vertebral bodies High palate Aplasia/Hypoplasia involving bones of the thorax Abnormality of the 5th metacarpal Rhizomelic leg shortening Open operculum Early ossification of capital femoral epiphyses Twelfth rib hypoplasia Subretinal deposits Abnormality of the genital system Rhizomelic arm shortening Cervical spinal canal stenosis Dilated third ventricle Abnormality of the acetabulum Abnormality of the optic disc Proximal femoral metaphyseal irregularity Short digit Recurrent aspiration pneumonia Micropenis Ranula Abnormal oral frenulum morphology Tibial bowing Accessory oral frenulum Adactyly Preaxial foot polydactyly Short femur Abnormal retinal morphology Partial agenesis of the corpus callosum Preaxial polydactyly Hamartoma Toe syndactyly Polycystic kidney dysplasia Preaxial hand polydactyly Radial deviation of finger Renal hypoplasia/aplasia Esotropia Acrania Cleft lip Cleft upper lip Mesocardia



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