Cognitive impairment, and Craniosynostosis

Diseases related with Cognitive impairment and Craniosynostosis

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Craniosynostosis that can help you solving undiagnosed cases.


Top matches:

Low match ISOLATED CLOVERLEAF SKULL SYNDROME


Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.

ISOLATED CLOVERLEAF SKULL SYNDROME Is also known as kleeblattschadel|cloverleaf skull

Related symptoms:

  • Cognitive impairment
  • Hydrocephalus
  • Malar flattening
  • Midface retrusion
  • Proptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CLOVERLEAF SKULL SYNDROME

Low match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME


CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Low match SECKEL SYNDROME


Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

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Other less relevant matches:

Low match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Low match GABRIELE-DE VRIES SYNDROME


Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Low match ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2


The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 Is also known as multisynostotic osteodysgenesis with long bone fractures|osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly-synostosis syndrome

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Depressed nasal bridge
  • Frontal bossing
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

Low match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Low match GREIG CEPHALOPOLYSYNDACTYLY SYNDROME


Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

Low match 1P31P32 MICRODELETION SYNDROME


1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Low match 3MC SYNDROME 2; 3MC2


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 2; 3MC2 Is also known as ptosis of eyelids with diastasis recti and hip dysplasia|oculo-skeletal-abdominal syndrome|carnevale syndrome, formerly|osa syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 2; 3MC2

Top 5 symptoms//phenotypes associated to Cognitive impairment and Craniosynostosis

Symptoms // Phenotype % cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Craniosynostosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Low-set ears Hypertelorism Short stature Prominent forehead Abnormal facial shape Macrocephaly Cryptorchidism Malar flattening Strabismus Scoliosis Scaphocephaly Sparse eyebrow Ptosis High palate Broad forehead Hernia Abnormality of the dentition Abnormality of the skeletal system Epicanthus High forehead Midface retrusion Proptosis

Rare Symptoms - Less than 30% cases


Esophageal atresia Posteriorly rotated ears Agenesis of corpus callosum Polydactyly Brachycephaly Umbilical hernia Telecanthus Hip dislocation Convex nasal ridge Finger syndactyly Anteverted nares Atrial septal defect Short nose Growth delay Apnea Skeletal dysplasia Inguinal hernia Abnormality of the vertebral column Ventriculomegaly Radioulnar synostosis Abnormality of the pinna Camptodactyly Metopic synostosis Facial asymmetry Ventricular septal defect Narrow chest Delayed speech and language development Generalized hypotonia Postural instability Wide nasal bridge Trigonocephaly Abnormal vertebral morphology Intrauterine growth retardation Seizures Depressed nasal bridge Abnormal heart morphology Hip dysplasia Hypospadias Abnormality of finger Snoring Absent frontal sinuses Delayed eruption of permanent teeth Delayed eruption of primary teeth High anterior hairline Broad hallux phalanx Preaxial foot polydactyly Medulloblastoma Cutaneous syndactyly of toes Abnormality of muscle fibers Persistence of primary teeth Abnormal pattern of respiration Low back pain Spondylolysis Small face Camptodactyly of toe Ridged nail Abnormality of calvarial morphology Spondylolisthesis Osteolytic defects of the phalanges of the hand Osteopetrosis 3-4 finger syndactyly Postaxial foot polydactyly Abnormality of digit Osteolytic defects of the distal phalanges of the hand Joint contracture of the hand Syndactyly Intellectual disability, mild Toe syndactyly Confusion Hirsutism Postaxial polydactyly Abnormal pelvis bone ossification Duplication of the distal phalanx of hand Congenital diaphragmatic hernia Persistent open anterior fontanelle Broad thumb Accelerated skeletal maturation Foot polydactyly Plagiocephaly Cutaneous syndactyly Preaxial polydactyly Hand polydactyly Hyperglycemia Preaxial hand polydactyly Large for gestational age Broad hallux Delayed cranial suture closure Partial agenesis of the corpus callosum Cutaneous finger syndactyly Postaxial hand polydactyly Upslanted palpebral fissure 1-3 toe syndactyly Muscular hypotonia of the trunk Cleft upper lip Prominent nasal bridge Blepharophimosis Protruding ear Postnatal growth retardation Cleft lip Conductive hearing impairment Downturned corners of mouth Depressivity Cleft palate Hearing impairment Partial absence of the septum pellucidum Craniofacial asymmetry Esodeviation Joint hypermobility Limited elbow movement Caudal appendage Broad foot Broad philtrum Bilateral cleft lip and palate Diastasis recti Short 5th finger Depressed nasal tip Bilateral cleft lip Supernumerary nipple Small hand Ectropion Bilateral conductive hearing impairment Torticollis Horseshoe kidney Hypoplasia of the musculature Omphalocele Highly arched eyebrow Epicanthus inversus Prominence of the premaxilla Failure to thrive Narrow mouth Thin vermilion border Attention deficit hyperactivity disorder Retinopathy Hydronephrosis Thin upper lip vermilion Jaundice Hyperactivity Vesicoureteral reflux Dilatation Hypertonia Hypoplasia of the corpus callosum Hypertension Motor delay Muscular hypotonia Polymicrogyria Urinary incontinence Intraventricular hemorrhage Absent septum pellucidum Ureterocele Broad face Arachnoid cyst Narrow nose Arnold-Chiari type I malformation Syringomyelia Cutis marmorata Overgrowth Obsessive-compulsive behavior Overfolded helix Abnormality of the urinary system Aplasia/Hypoplasia of the corpus callosum Short chin Renal hypoplasia Pigmentary retinopathy Abnormality of the clavicle Hypodontia Agenesis of permanent teeth Hypoplastic nasal bridge Pectus excavatum Patent ductus arteriosus Polyhydramnios Hypertrophic cardiomyopathy Leukemia Dolichocephaly Pulmonic stenosis Webbed neck Mitral valve prolapse Deep philtrum Pterygium Cystic hygroma Sagittal craniosynostosis Myeloproliferative disorder Juvenile myelomonocytic leukemia Abnormality of earlobe Anxiety Thick lower lip vermilion Waddling gait Delayed myelination Gliosis Abnormality of the cerebral white matter Joint laxity Hypothyroidism Atrial septal dilatation Absent speech Dystonia Behavioral abnormality Tremor Feeding difficulties Dysplastic pulmonary valve Absent earlobe Mild global developmental delay Long fingers Elbow ankylosis Dandy-Walker malformation Ectodermal dysplasia Hematuria Sparse hair Abnormality of the kidney Proteinuria Craniofacial dysostosis Sparse eyelashes Cloverleaf skull Recurrent corneal erosions Amniotic constriction ring Abnormal form of the vertebral bodies Limitation of joint mobility Low-set, posteriorly rotated ears Cerebellar vermis hypoplasia Nephritis Prematurely aged appearance Sparse scalp hair Cone-shaped epiphysis Cachexia Reduced number of teeth Sandal gap Abnormality of dental enamel Narrow face Joint hyperflexibility Hypoplastic toenails Glaucoma Clinodactyly of the 5th finger Delayed skeletal maturation Microcephaly Posterior fossa cyst Tubulointerstitial nephritis Pointed chin Periorbital fullness Prominent occiput Abnormality of the face Kyphosis Osteoporosis Hepatosplenomegaly Hyperlordosis Carious teeth Short distal phalanx of finger Delayed eruption of teeth Recurrent fractures Hypoplasia of the maxilla Prominent nose Growth hormone deficiency Abnormality of the skin Blue sclerae Small nail Abnormality of epiphysis morphology Brachydactyly Sleep apnea Osteomyelitis Abnormality of dental morphology Abnormality of the thorax Back pain Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Osteolysis Bone pain Abnormality of the fingernails Narrow palate Wormian bones Abnormality of the nail Increased bone mineral density Short toe Splenomegaly Hepatomegaly Lacrimal duct stenosis Progressive neurologic deterioration Malnutrition Multiple joint contractures Rocker bottom foot Abnormality of the genitourinary system Wide anterior fontanel Choanal atresia Arachnodactyly Slender finger Respiratory tract infection Respiratory failure Recurrent respiratory infections Long philtrum Flexion contracture Mild intrauterine growth retardation Femoral bowing Coronal craniosynostosis Anemia Ulnar bowing Pain Fused labia minora Bicoronal synostosis Pear-shaped nose Narrow pelvis bone Narrow iliac wings Humeroradial synostosis Stenosis of the external auditory canal Lambdoidal craniosynostosis Abnormal renal morphology Vaginal atresia Upper airway obstruction Hypoplastic labia majora Choanal stenosis Partial abdominal muscle agenesis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Joint hyperflexibility, related diseases and genetic alterations Hydrocephalus and Prominent nose, related diseases and genetic alterations Visual impairment and Retinal dystrophy, related diseases and genetic alterations Flexion contracture and Paresthesia, related diseases and genetic alterations

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