Delayed speech and language development, and Holoprosencephaly

Diseases related with Delayed speech and language development and Holoprosencephaly

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


Top matches:

Medium match MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7

Related symptoms:

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


SOURCES: MONDO MESH OMIM UMLS

More info about MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST

X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST Is also known as mental retardation and macrocephaly syndrome;

Related symptoms:

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


SOURCES: OMIM UMLS DOID MONDO ORPHANET MESH

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

EIEE49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hyperreflexia


SOURCES: MONDO UMLS OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

Mendelian

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Other less relevant matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).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, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Medium 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

Medium match CORNELIA DE LANGE SYNDROME 2; CDLS2

Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked, cdls, x-linked

Related symptoms:

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


SOURCES: UMLS SCTID OMIM MONDO NCIT

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

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

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 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae (Jenkins et al., 2009). In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability due to pressure on cranial nerves, e.g., deafness. Osteopathia striata is a frequent feature of focal dermal hypoplasia (FDH ).Although early reports of familial cases of this disorder appeared to suggest autosomal dominant inheritance (see, e.g., Horan and Beighton, 1978 and Konig et al., 1996), reappraisal of the literature (Behninger and Rott, 2000; Rott et al., 2003) and the finding of a molecular basis for the disorder by Jenkins et al. (2009) confirms that the inheritance pattern is X-linked dominant. Affected males who survive have a more severe phenotype than affected females, and sporadic male cases may result from somatic mosaicism (Behninger and Rott, 2000).

OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS Is also known as hyperostosis generalisata with striations;hyperostosis generalisata with striations; robinow-unger syndrome

Related symptoms:

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


SOURCES: GARD EFO UMLS DOID OMIM SCTID MONDO MESH ORPHANET

More info about OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

Low match HOLOPROSENCEPHALY 11; HPE11

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum


SOURCES: DOID UMLS MONDO OMIM

More info about HOLOPROSENCEPHALY 11; HPE11

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability, severe Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Cataract Absent speech Hydrocephalus Ventriculomegaly Short stature Open mouth Hypotelorism Muscular hypotonia Hypoplasia of the corpus callosum Dilatation Short neck Macrocephaly Pica Abnormal facial shape Lobar holoprosencephaly Scoliosis Abnormal heart morphology Atrial septal defect Intrauterine growth retardation Abnormality of cardiovascular system morphology Ventricular septal defect Hearing impairment Dolichocephaly Micrognathia Autosomal dominant inheritance High palate Ptosis Myopathy Thick eyebrow Microphthalmia Clinodactyly Cognitive impairment Autosomal recessive inheritance Brachycephaly Downslanted palpebral fissures Oxycephaly Cleft palate Cleft lip Flexion contracture

Rare Symptoms - Less than 30% cases


High forehead Anal atresia Abnormality of the genital system Posteriorly rotated ears Anteverted nares Retrognathia Brachydactyly Hypothyroidism Conductive hearing impairment Anal stenosis Growth delay Thin upper lip vermilion Spina bifida Hypoplasia of the brainstem Pulmonic stenosis Bifid uvula Congenital cataract Hip dislocation Specific learning disability Apnea Abnormality of the pinna EEG abnormality Nasal speech Gastroesophageal reflux Patent ductus arteriosus Coloboma Low-set ears Hernia Sporadic Nephrotic syndrome Clinodactyly of the 5th finger Inguinal hernia Broad forehead Agenesis of corpus callosum Thin vermilion border Frontal bossing Wide nasal bridge Epicanthus Hypertelorism Hydronephrosis Bulbous nose Webbed neck Echolalia X-linked dominant inheritance Narrow forehead Nevus Tics Wide intermamillary distance Pierre-Robin sequence Submucous cleft hard palate Synophrys Prominent nasal bridge Long philtrum Multicystic kidney dysplasia Long eyelashes Elevated serum creatine phosphokinase Cerebral calcification Hypertonia Intellectual disability, mild Infantile onset Obesity Coarse facial features Knee flexion contracture Glaucoma Myopia Long face Muscular dystrophy Buphthalmos Abnormality of the cerebral white matter Polymicrogyria Cerebellar cyst Lissencephaly Cerebellar vermis hypoplasia Ankle contracture Hyperreflexia Anxiety Everted lower lip vermilion Milia Strabismus Muscular hypotonia of the trunk Hyperactivity Prominent nose Optic atrophy Pectus excavatum Asymmetry of the thorax Mood swings Aplasia of the uterus High iliac wings Interrupted aortic arch Giant platelets Flexion contracture of toe Juvenile rheumatoid arthritis Thoracolumbar kyphosis Otosclerosis Graves disease Conotruncal defect Broad clavicles Sclerosis of skull base Craniofacial osteosclerosis Perimembranous ventricular septal defect Alobar holoprosencephaly Paranoia Laryngeal web Laryngotracheomalacia Rough bone trabeculation Large iliac wings Poroma Platybasia Perseveration Velopharyngeal insufficiency Facial hyperostosis Right aortic arch Seborrheic dermatitis Hyperostosis Cystic renal dysplasia Apathy Rheumatoid arthritis Unilateral renal agenesis Paranasal sinus hypoplasia Psoriasiform dermatitis Abnormality of the ear Myopathic facies Acne Proptosis Cholelithiasis Obsessive-compulsive behavior Arnold-Chiari malformation Schizophrenia Dysdiadochokinesis Narrow palpebral fissure Abnormality of the hand Growth hormone deficiency Purpura Bicuspid aortic valve Hypocalcemia Hypoparathyroidism Metaphyseal striations Abnormality of the larynx Unilateral facial palsy Posterior embryotoxon Pulmonary artery atresia Duodenal stenosis Truncus arteriosus Osteopathia striata Vitiligo Myelomeningocele Delusions Bipolar affective disorder Inflammation of the large intestine Nephrogenic rest Hearing abnormality Straight clavicles Axonal loss Autoimmune thrombocytopenia Meningocele Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the vasculature Abnormality of the endocrine system Vascular ring Retinal vascular tortuosity Omphalocele Increased bone mineral density Osteolysis Abnormal vertebral morphology Aortic valve stenosis Osteopetrosis Aganglionic megacolon Joint contracture of the hand Dental crowding Large fontanelles Spina bifida occulta Coarctation of aorta Abnormality of the metaphysis Intestinal malrotation Lumbar hyperlordosis Thick lower lip vermilion Oligohydramnios Dental malocclusion Spontaneous abortion Paralysis Narrow palate Microretrognathia Thick vermilion border Mixed hearing impairment Hypoplastic left heart Thickened calvaria Aphasia Dysphasia Abnormal renal morphology Tracheomalacia Natal tooth Increased susceptibility to fractures Delayed cranial suture closure Hand polydactyly Fibular hypoplasia Visual field defect Nephroblastoma Cutaneous syndactyly Flat occiput Overfolded helix Metaphyseal widening Mutism Pyloric stenosis Broad nasal tip High, narrow palate Impaired T cell function Unilateral primary pulmonary dysgenesis Abnormality of the skeletal system Talipes equinovarus Pain Neoplasm Depressed nasal bridge Failure to thrive Facial paralysis Fibular aplasia Unilateral lung agenesis Syndactyly Right aortic arch with mirror image branching Congenital conductive hearing impairment Sacral meningocele Partial agenesis of the corpus callosum Arteria lusoria Perineal fistula Central nervous system degeneration Aplasia of the thymus Psychotic episodes Abnormality of the dentition Polyhydramnios Delayed eruption of teeth Delayed closure of the anterior fontanelle Arachnodactyly Flat face Misalignment of teeth Ectopic anus Broad ribs Cleft upper lip Microtia Ankylosis Camptodactyly Severe short stature Craniosynostosis White forelock Large forehead Hyperlordosis Skeletal dysplasia Facial palsy Thoracic dysplasia Headache Prominent forehead Abnormality of the skin Single transverse palmar crease Hallucinations Pachygyria Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Hemivertebrae Bradycardia EMG abnormality Preauricular skin tag Congenital hip dislocation Encephalocele Skeletal muscle hypertrophy Generalized muscle weakness Brain atrophy Abnormal cerebellum morphology Retinal detachment Hypermetropia Dilated cardiomyopathy Arthrogryposis multiplex congenita Camptodactyly of finger Mask-like facies Increased variability in muscle fiber diameter Cerebellar hypoplasia Weak cry Hypoplasia of the pyramidal tract Thoracic hemivertebrae Myocardial fibrosis Exaggerated startle response Auricular tag Type II lissencephaly Cerebellar dysplasia Retinal dysplasia Anencephaly Calf muscle hypertrophy Transposition of the great arteries Atrophy/Degeneration affecting the brainstem Spinal rigidity Multiple joint contractures Generalized amyotrophy Cortical dysplasia Cephalocele Congenital muscular dystrophy Rigidity Areflexia Spasticity Pointed chin Macrotia Myoclonus Absent nares Female infertility Macroorchidism Long fingers Limited elbow extension Delayed gross motor development Abnormality of the fingernails Clonus Intellectual disability, profound Tapered finger X-linked inheritance Intellectual disability, moderate Cortical gyral simplification Sloping forehead Congenital onset Ataxia Short philtrum Severe global developmental delay Respiratory distress Leukodystrophy Respiratory insufficiency Gait disturbance Skeletal muscle atrophy Visual impairment Muscle weakness Motor delay Renal cortical cysts Poor head control High myopia Tetraplegia Retinal dystrophy Acrania Corneal opacity Respiratory failure Coma Fusion of the left and right thalami Thick upper lip vermilion Spastic tetraplegia Hypoglycosylation of alpha-dystroglycan Feeding difficulties Renal dysplasia Short 5th toe Depressivity Thrombocytopenia Hypospadias Behavioral abnormality Cerebellar atrophy Fever Anemia Leukocoria Recurrent infections Anteverted ears Retinoblastoma Thickened helices Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thumb Absent septum pellucidum Retinal coloboma Supernumerary nipple Immunodeficiency Dementia Finger clinodactyly Chorea Primary amenorrhea Psychosis Peripheral demyelination Low posterior hairline Tetralogy of Fallot Amenorrhea Renal agenesis Underdeveloped nasal alae Vesicoureteral reflux Arthritis Hemolytic anemia Dysmetria Renal cyst Autoimmunity Blepharophimosis Mental deterioration Aggressive behavior Umbilical hernia Trigonocephaly Chorioretinal coloboma Recurrent respiratory infections Small hand Low anterior hairline Mitral regurgitation Ventricular hypertrophy Mitral valve prolapse Febrile seizures Esotropia Full cheeks Poor speech Hirsutism Aortic regurgitation Highly arched eyebrow Short foot Downturned corners of mouth Smooth philtrum Sparse hair Respiratory tract infection Hypertrophic cardiomyopathy X-linked recessive inheritance Decreased body weight Widely spaced teeth Patent foramen ovale Short nose Deep philtrum Abnormal dermatoglyphics Wide anterior fontanel Iris coloboma Finger syndactyly Wide mouth Protruding ear Micropenis Cryptorchidism Cutis marmorata Skull asymmetry Semilobar holoprosencephaly Curly eyelashes Limited elbow movement Hemihypertrophy Enlarged cisterna magna Prominent metopic ridge Proximal placement of thumb Polysplenia


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