Delayed speech and language development, and Encephalocele

Diseases related with Delayed speech and language development and Encephalocele

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


Top matches:

Low match JOUBERT SYNDROME 8; JBTS8

Related symptoms:

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


SOURCES: OMIM MESH MONDO DOID UMLS

More info about JOUBERT SYNDROME 8; JBTS8

Low match CRANIOSYNOSTOSIS 4; CRS4

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-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms.For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge
  • Delayed speech and language development


SOURCES: MONDO UMLS OMIM

More info about CRANIOSYNOSTOSIS 4; CRS4

Low match JOUBERT SYNDROME 24; JBTS24

Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).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
  • Ataxia
  • Nystagmus


SOURCES: MONDO OMIM DOID UMLS

More info about JOUBERT SYNDROME 24; JBTS24

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Other less relevant matches:

Low match JOUBERT SYNDROME 10; JBTS10

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica
  • Growth delay


SOURCES: UMLS DOID MESH OMIM MONDO

More info about JOUBERT SYNDROME 10; JBTS10

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 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007; Muntoni and Voit, 2004; Muntoni et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 Is also known as fukuyama congenital muscular dystrophy;fcmd, walker-warburg syndrome or muscle-eye-brain disease, fktn-related;fcmd; fukuyama congenital muscular dystrophy

Related symptoms:

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


SOURCES: MONDO UMLS SCTID ORPHANET DOID NCIT OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

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

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 LISSENCEPHALY 8; LIS8

Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MONDO UMLS

More info about LISSENCEPHALY 8; LIS8

Low match MECKEL SYNDROME 13; MKS13

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Micrognathia
  • Flexion contracture


SOURCES: OMIM MONDO DOID

More info about MECKEL SYNDROME 13; MKS13

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Cephalocele Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Molar tooth sign on MRI Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Occipital encephalocele

Common Symptoms - More than 50% cases


Absent speech

Uncommon Symptoms - Between 30% and 50% cases


Polydactyly Cerebellar hypoplasia Polymicrogyria Ataxia Macrocephaly Epicanthus Low-set ears Cerebellar vermis hypoplasia Oculomotor apraxia Seizures Postaxial polydactyly Microphthalmia Renal cyst Nystagmus Strabismus Oxycephaly Hydrocephalus Pica Hypoplasia of the brainstem Apnea Frontal bossing Nevus Ventriculomegaly Dandy-Walker malformation Ptosis Hypertelorism Infantile onset Gait disturbance Micrognathia Muscular hypotonia

Rare Symptoms - Less than 30% cases


Postaxial hand polydactyly Pachygyria Abnormal cerebellum morphology Motor delay Growth delay Downslanted palpebral fissures Agenesis of cerebellar vermis Feeding difficulties Milia Tachypnea Elevated serum creatine phosphokinase Cataract Scoliosis Myopathy Flexion contracture Breathing dysregulation Meningocele Retinal coloboma Open mouth EEG abnormality Highly arched eyebrow Coloboma Intellectual disability, severe Elongated superior cerebellar peduncle Enlarged cisterna magna Myopia Feeding difficulties in infancy Prominent nasal bridge Optic atrophy Telecanthus Retinal dystrophy Increased intracranial pressure Anteverted nares Hypoplasia of the corpus callosum Malar flattening Retinal dysplasia Abnormality of eye movement Lissencephaly Aplasia/Hypoplasia of the corpus callosum Abnormality of the eye Plagiocephaly Hypermetropia Apraxia Spasticity Prominent forehead Type II lissencephaly Talipes equinovarus Dysgenesis of the cerebellar vermis Depressed nasal bridge Abnormal saccadic eye movements Abnormal pattern of respiration Abnormal facial shape Tremor Tics Meningoencephalocele Cognitive impairment Abnormality of ocular smooth pursuit Mandibular prognathia Hypoglycosylation of alpha-dystroglycan Hypoplasia of the pyramidal tract Episodic tachypnea Thoracic hemivertebrae Heterogeneous Heterotopia Abnormality of the hypothalamus-pituitary axis Downturned corners of mouth Hepatic fibrosis Situs inversus totalis Abnormal form of the vertebral bodies Narrow forehead Oral cleft Macroglossia Hand polydactyly Chorioretinal coloboma Abnormality of skin pigmentation Abnormality of neuronal migration Iris coloboma Central apnea Biparietal narrowing Protruding tongue Long face Abnormality of the foot Foot polydactyly Aggressive behavior Impaired smooth pursuit Hyperactivity Optic nerve coloboma Self-mutilation Aganglionic megacolon Gastroesophageal reflux Neonatal breathing dysregulation Rhizomelic arm shortening Renal cortical cysts Long clavicles Hyperechogenic kidneys Duane anomaly Recurrent aspiration pneumonia Short digit Proximal femoral metaphyseal irregularity Abnormality of the optic disc Abnormality of the acetabulum Dilated third ventricle Cervical spinal canal stenosis Subretinal deposits Colpocephaly Small cervical vertebral bodies Twelfth rib hypoplasia Early ossification of capital femoral epiphyses Open operculum Rhizomelic leg shortening Abnormality of the 5th metacarpal Aplasia/Hypoplasia involving bones of the thorax Microcephaly Muscular hypotonia of the trunk Generalized myoclonic seizures Abnormal myelination Retinopathy Abnormality of the basal ganglia Abnormal corpus callosum morphology Brainstem dysplasia Elevated hepatic transaminase Enlarged fossa interpeduncularis Hemifacial spasm Occipital myelomeningocele Triangular-shaped open mouth Short stature Failure to thrive Brachydactyly Renal insufficiency Hypospadias Recurrent respiratory infections Visual loss Myocardial fibrosis Redundant neck skin Low-set, posteriorly rotated ears Wide intermamillary distance Renal dysplasia Short ribs Overfolded helix Supernumerary nipple Cone-shaped epiphysis Thoracic hypoplasia Absent septum pellucidum Bell-shaped thorax Dilation of lateral ventricles Chronic lung disease Lobar holoprosencephaly Congenital cataract Exaggerated startle response Rod-cone dystrophy Posterior plagiocephaly Hyperreflexia Talipes Dysmetria Mutism Abnormality of digit Adactyly Wide nasal bridge X-linked recessive inheritance Recurrent infections Hirsutism Prominent scalp veins Thick vermilion border Intellectual disability, profound Deep philtrum Infra-orbital crease Hypertension Pneumonia Posteriorly rotated ears High forehead Short philtrum Deeply set eye Pansynostosis Ectopic posterior pituitary Tented upper lip vermilion Short nose Hepatomegaly Hypertonia Obesity Gait ataxia Jaundice Pigmentary retinopathy Optic disc pallor Undetectable electroretinogram Hyperventilation Autosomal dominant inheritance Midface retrusion Craniofacial dysostosis Retrognathia Proptosis Craniosynostosis Acrania Small hand Microretrognathia Optic nerve hypoplasia Flat occiput Arnold-Chiari type I malformation Anterior plagiocephaly Lambdoidal craniosynostosis Irritability Multiple renal cysts Auricular tag Congenital muscular dystrophy Preauricular skin tag EMG abnormality Bradycardia Knee flexion contracture Hemivertebrae Holoprosencephaly Mask-like facies Skeletal muscle hypertrophy Increased variability in muscle fiber diameter Calf muscle hypertrophy Cortical dysplasia Generalized muscle weakness Generalized amyotrophy Multiple joint contractures Spinal rigidity Atrophy/Degeneration affecting the brainstem Transposition of the great arteries Anencephaly Weak cry Ankle contracture Cerebellar cyst Buphthalmos Cerebellar dysplasia Congenital hip dislocation Brain atrophy Morning glory anomaly Agenesis of corpus callosum Muscle weakness Visual impairment Intrauterine growth retardation Skeletal muscle atrophy Respiratory insufficiency Atrial septal defect Pectus excavatum Respiratory distress Areflexia Dilatation Brachycephaly Retinal detachment Glaucoma Rigidity Camptodactyly of finger Abnormality of the pinna Hip dislocation Arthrogryposis multiplex congenita Dolichocephaly Muscular dystrophy Abnormality of the cerebral white matter Dilated cardiomyopathy Pulmonic stenosis Polycystic kidney dysplasia



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