Delayed speech and language development, and Large fontanelles
Diseases related with Delayed speech and language development and Large fontanelles
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Large fontanelles that can help you solving undiagnosed cases.
Top matches:
Medium match CRANIOSYNOSTOSIS 7; CRS7
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).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).
CRANIOSYNOSTOSIS 7; CRS7 Is also known as craniosynostosis 7, digenic, crs7, digenic
Related symptoms:
- Autosomal dominant inheritance
- Global developmental delay
- Delayed speech and language development
- Craniosynostosis
- Neurodevelopmental delay
More info about CRANIOSYNOSTOSIS 7; CRS7
Medium match CHROMOSOME 16p13.2 DELETION SYNDROME
CHROMOSOME 16p13.2 DELETION SYNDROME Is also known as ;del(16)(p13.2); monosomy 16p13.2
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
SOURCES: MONDO UMLS OMIM ORPHANET
More info about CHROMOSOME 16p13.2 DELETION SYNDROMEMedium match SWEENEY-COX SYNDROME; SWCOS
Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).
Related symptoms:
- Global developmental delay
- Hearing impairment
- Hypertelorism
- Micrognathia
- Ptosis
SOURCES: OMIM
More info about SWEENEY-COX SYNDROME; SWCOSToo many results?
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Other less relevant matches:
Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B
De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B Is also known as de barsy syndrome b;pycr1 deficiency; pyrroline-5-carboxylate reductase 1 deficiency
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Hypertelorism
- Cryptorchidism
- Flexion contracture
SOURCES: OMIM ORPHANET MONDO DOID UMLS
More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3BMedium match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as oddd, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, odod, autosomal recessive
Related symptoms:
- Autosomal recessive inheritance
- Global developmental delay
- Short stature
- Pica
- Micrognathia
SOURCES: GARD OMIM UMLS MESH MONDO
More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVEMedium match CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD Is also known as boyadjiev-jabs syndrome;boyadjiev-jabs syndrome
Related symptoms:
- Autosomal recessive inheritance
- Short stature
- Scoliosis
- Hypertelorism
- Failure to thrive
SOURCES: OMIM SCTID UMLS MESH MONDO ORPHANET
More info about CRANIOLENTICULOSUTURAL DYSPLASIA; CLSDMedium match CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE
The Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (review by Toriello et al., 2003).
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE Is also known as toriello-carey syndrome;corpus callosum agenesis-blepharophimosis-robin sequence syndrome
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES: GARD ORPHANET OMIM SCTID MONDO MESH UMLS
More info about CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCEMedium 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 SYNDROMEMedium match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP
The microcephaly-capillary malformation syndrome is a congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects (summary by Carter et al., 2011 and Mirzaa et al., 2011).
MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP Is also known as ;mic-cap syndrome; mic-cm syndrome; microcephaly-cutaneous capillary malformation syndrome
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES: SCTID UMLS OMIM MONDO ORPHANET
More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAPMedium match PEROXISOME BIOGENESIS DISORDER 1B; PBD1B
Peroxisome biogenesis disorder-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. Most affected children have hypotonia, but unlike Zellweger syndrome (see PBD1A, {214100}) there is a degree of psychomotor development, and some patients achieve head control, sit unsupported, and may even walk independently. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. In PBD1B, the most common manifestations that are less apparent in ZS are sensorineural hearing loss and retinitis pigmentosa (summary by Steinberg et al., 2006). While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).Individuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see {214100}.
PEROXISOME BIOGENESIS DISORDER 1B; PBD1B Is also known as peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease), peroxisome biogenesis disorder (nald/ird), adrenoleukodystrophy, autosomal neonatal, refsum disease, infantile, infantile phytanic acid storage disease;ird
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
More info about PEROXISOME BIOGENESIS DISORDER 1B; PBD1B
Top 5 symptoms//phenotypes associated to Delayed speech and language development and Large fontanelles
Symptoms // Phenotype | % cases |
---|---|
Global developmental delay | Common - Between 50% and 80% cases |
Autosomal recessive inheritance | Common - Between 50% and 80% cases |
Intellectual disability | Common - Between 50% and 80% cases |
Cryptorchidism | Common - Between 50% and 80% cases |
Abnormal facial shape | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Delayed speech and language development and Large fontanelles. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Short stature Micrognathia Hypertelorism Anteverted nares Wide anterior fontanel Hearing impairment Epicanthus Generalized hypotonia Failure to thrive Pica Seizures Cleft palate Ptosis Syndactyly Narrow chest Wide nasal bridge Underdeveloped nasal alae Hypoplasia of the maxilla Optic atrophy Thin vermilion border Frontal bossing Clinodactyly Cataract Autosomal dominant inheritance Muscular hypotonia Low-set ears
Rare Symptoms - Less than 30% cases
Short nose Downslanted palpebral fissures Pes planus Blepharophimosis Sparse hair Small nail Esotropia Wide nose Fine hair Pulmonic stenosis Narrow palpebral fissure Aggressive behavior Autism Absent speech Long philtrum Thin upper lip vermilion Osteoporosis Midface retrusion Malar flattening Telecanthus Short foot Delayed eruption of teeth Short palm Downturned corners of mouth Craniosynostosis High palate Scoliosis Short palpebral fissure Spasticity Prominent forehead Hypoplasia of teeth Hernia Cerebellar hypoplasia Microcephaly Growth delay Long fingers High forehead Depressed nasal bridge Brachydactyly Feeding difficulties Ventricular septal defect Gastroesophageal reflux Cerebral atrophy Retrognathia Oligohydramnios Cardiomyopathy Upper limb undergrowth Shawl scrotum Tracheal stenosis Hypoplasia of the bladder Subcortical cerebral atrophy Abnormality of the larynx Ovarian cyst Redundant neck skin Urethral stenosis Cleft soft palate Ureterocele Long toe Hyperconvex nail Unilateral renal agenesis Aplasia of the uterus Laryngeal hypoplasia Diabetes mellitus Renal insufficiency Hydronephrosis Stage 5 chronic kidney disease Renal hypoplasia Abnormality of upper lip Highly arched eyebrow Hypermetropia Nail dystrophy Pierre-Robin sequence Sparse and thin eyebrow Facial asymmetry Anotia Protruding ear Recurrent urinary tract infections Hypoplastic left heart Horizontal nystagmus Elevated hepatic transaminase Multicystic kidney dysplasia Renal hypoplasia/aplasia Schizophrenia Focal seizures with impairment of consciousness or awareness Anteriorly placed anus Language impairment Tracheomalacia Mandibular prognathia Bilateral sensorineural hearing impairment Hypertrichosis Ventricular hypertrophy Aplasia of the vagina Respiratory tract infection Renal cyst Ichthyosis Dolichocephaly Congenital cataract Nyctalopia Postnatal growth retardation Retinopathy Convex nasal ridge Neonatal hypotonia Facial palsy Jaundice Acidosis Rod-cone dystrophy Behavioral abnormality Cirrhosis Abnormality of epiphysis morphology Skeletal muscle atrophy Severe hearing impairment Elevated levels of phytanic acid Progressive spinal muscular atrophy Hyperoxaluria Very long chain fatty acid accumulation Hypocholesterolemia Polar cataract Epiphyseal stippling Abnormality of the face Impulsivity Spinal muscular atrophy Constriction of peripheral visual field Progressive muscle weakness Leukodystrophy Hepatic fibrosis Nephrolithiasis Arrhythmia Hepatomegaly Ureteral atresia Clonus Delayed myelination Poor speech Vesicoureteral reflux Short distal phalanx of finger Severe global developmental delay Small for gestational age Muscular hypotonia of the trunk Neonatal respiratory distress Intellectual disability, moderate Myoclonus Polyhydramnios Congenital onset Hypoplasia of the corpus callosum Intrauterine growth retardation Pancreatic aplasia Sloping forehead Tetraparesis Peripheral neuropathy Capillary malformation Visual impairment Sensorineural hearing impairment Nystagmus Ataxia Abnormal hair whorl Hemiclonic seizures Right ventricular hypertrophy Short toe Short 5th finger Central hypotonia Long palpebral fissure Cortical gyral simplification Patent foramen ovale Spastic tetraparesis Progressive microcephaly Proximal placement of thumb Brittle hair Cerebellar vermis hypoplasia Pyloric stenosis Upper eyelid coloboma Flexion contracture Coma Inguinal hernia Posteriorly rotated ears Glaucoma Deeply set eye Hip dislocation Blue sclerae Thin skin Athetosis Elbow flexion contracture Cutis laxa Congenital glaucoma Velopharyngeal insufficiency Excessive wrinkled skin Narrow nasal ridge Dermal translucency Motor delay Myopia Abnormality of the dentition Microphthalmia Delayed skeletal maturation Brachycephaly Narrow mouth Toe syndactyly Triangular face Microcornea Median cleft palate Short columella Dental malocclusion Talipes equinovarus Neurodevelopmental delay Strabismus Clinodactyly of the 5th finger Micropenis Autistic behavior Apraxia Trigonocephaly Delayed cranial suture closure Hallux valgus Speech apraxia Perseveration Central sleep apnea Premature adrenarche Proptosis Asplenia Anal atresia Coloboma Talipes Hirsutism Choanal atresia Generalized hirsutism Overfolded helix Cutaneous syndactyly Cupped ear Bilateral talipes equinovarus Prominent metopic ridge Eyelid coloboma Broad neck Small hand Sparse scalp hair Full cheeks Posterior wedging of vertebral bodies Microdontia Hyperpigmentation of the skin Hemangioma Coarse hair Prominent supraorbital ridges Premature loss of teeth Capillary hemangioma Decreased skull ossification Delayed closure of the anterior fontanelle Narrow iliac wings Sutural cataract High iliac wings Posterior Y-sutural cataract Punctate cataract Bifid uvula Forehead hyperpigmentation Short neck Hydrocephalus Abnormality of cardiovascular system morphology Hypospadias Respiratory distress Patent ductus arteriosus Agenesis of corpus callosum Respiratory failure Abnormal heart morphology Abnormality of the pinna Abnormal cardiac septum morphology Postural instability Prominent nose Abnormality of skin pigmentation Dental crowding Broad long bones Overgrowth Abnormality of dental enamel Sparse eyelashes Abnormality of dental morphology Hyperostosis Long nose Basal ganglia calcification Narrow nose Spinal cord compression Large earlobe Mild global developmental delay Cutaneous syndactyly of toes Cranial hyperostosis Persistent pupillary membrane Smooth philtrum Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Macrocephaly Oxycephaly Osteopenia Joint laxity Skeletal dysplasia Wide mouth Prominent nasal bridge Joint hyperflexibility Carious teeth Renal atrophy
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