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


SOURCES: MONDO UMLS OMIM

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 SYNDROME

Medium 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; SWCOS

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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; ARCL3B

Medium 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 RECESSIVE

Medium 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; CLSD

Medium 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 SEQUENCE

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 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; MICCAP

Medium 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}. Genetic Heterogeneity of Peroxisome Biogenesis Disorder NALD/IRDThe phenotypic spectrum of NALD/IRD peroxisome biogenesis disorders can be caused by mutation in members of the peroxin (PEX) gene family. The PEX genes encode proteins essential for the assembly of functional peroxisomes (summary by Distel et al., 1996). PBD1B is caused by mutation in the PEX1 gene on chromosome 7q21; PBD2B (OMIM ) is caused by mutation in the PEX5 gene (OMIM ) on chromosome 12p13.3; PBD3B (OMIM ) is caused by mutation in the PEX12 gene (OMIM ) on chromosome 17; PBD4B (OMIM ) is caused by mutation in the PEX6 gene (OMIM ) on chromosome 6p21.1; PBD5B (OMIM ) is caused by mutation in the PEX2 gene (OMIM ) on chromosome 8q21.1; PBD6B (OMIM ) is caused by mutation in the PEX10 gene (OMIM ) on chromosome 1p36.32; PBD7B (OMIM )is caused by mutation in the PEX26 gene (OMIM ) on chromosome 22q11.21; PBD8B (OMIM ) is caused by mutation in the PEX16 gene (OMIM ) on chromosome 11p11; PDB10B (OMIM ) is caused by mutation in the PEX3 gene (OMIM ) on chromosome 6q24; and PBD11B (OMIM ) is caused by mutation in the PEX13 gene (OMIM ) on chromosome 2p15.See PBD1A (OMIM ) for a phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, which is also caused by mutation in peroxin genes. The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; {215100}), and a mild PBD without rhizomelia (PBD9B ), are caused by mutation in the PEX7 gene (OMIM ) on chromosome 6q23.

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


SOURCES: ORPHANET OMIM

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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