Hydrocephalus, and Brachycephaly

Diseases related with Hydrocephalus and Brachycephaly

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

Top matches:

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Medium match GORLIN SYNDROME

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Other less relevant matches:

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

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

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Medium match PFEIFFER SYNDROME

Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

PFEIFFER SYNDROME Is also known as acrocephalosyndactyly, type v|noack syndrome|acs5|acs v

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about PFEIFFER SYNDROME

Medium 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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Brachycephaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Brachycephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Short stature Global developmental delay Brachydactyly Malar flattening Hypoplasia of the maxilla Abnormal facial shape Micrognathia Downslanted palpebral fissures Proptosis Craniosynostosis Choanal atresia High forehead Depressed nasal bridge Microcephaly Wide nose Prominent forehead Epicanthus Abnormality of the skeletal system Seizures Generalized hypotonia Choanal stenosis Mandibular prognathia Bicoronal synostosis

Rare Symptoms - Less than 30% cases

Arachnodactyly Bulbous nose Broad forehead Joint laxity Apnea Osteoporosis Melanocytic nevus Carious teeth Ventriculomegaly Cognitive impairment Failure to thrive Blue sclerae Brachyturricephaly Abnormality of the dentition Hearing impairment Narrow chest Humeroradial synostosis Dry skin Hepatosplenomegaly Splenomegaly Conductive hearing impairment Hepatomegaly Narrow iliac wings Skeletal dysplasia Convex nasal ridge Acanthosis nigricans Arnold-Chiari malformation Cloverleaf skull Abnormality of the skin Craniofacial dysostosis Coronal craniosynostosis Abnormality of the pinna Epidermal acanthosis Recurrent fractures Deeply set eye Cleft palate Cryptorchidism Synophrys Spasticity Coarse facial features Ptosis Feeding difficulties High palate Short nose Delayed speech and language development Wide nasal bridge Kyphosis Delayed eruption of primary teeth Hypopigmentation of the skin Delayed eruption of permanent teeth Abnormal vertebral morphology Posteriorly rotated ears Renal insufficiency Respiratory insufficiency Optic atrophy Visual impairment Persistence of primary teeth Low back pain Abnormal pattern of respiration Nevus Migraine Dental malocclusion Short metacarpal Small face Ridged nail Abnormal form of the vertebral bodies Spondylolisthesis Abnormal palate morphology Osteolytic defects of the phalanges of the hand Abnormality of the metacarpal bones Increased intracranial pressure Fused labia minora Narrow pelvis bone Absent frontal sinuses Multiple joint contractures Cardiovascular calcification Flexion contracture Atrial septal defect Long philtrum Recurrent respiratory infections Respiratory failure Camptodactyly Respiratory tract infection Persistent open anterior fontanelle Progressive neurologic deterioration Wide anterior fontanel Abnormality of the genitourinary system Radioulnar synostosis Rocker bottom foot Malnutrition Pear-shaped nose Femoral bowing Slender finger Esophageal atresia Stenosis of the external auditory canal Osteolytic defects of the distal phalanges of the hand Hypoplastic labia majora Spondylolysis Upper airway obstruction Vaginal atresia Abnormal renal morphology Lambdoidal craniosynostosis Snoring Ulnar bowing Glomerulonephritis Laryngomalacia Turricephaly Aplasia/Hypoplasia of the cerebellum Macrocephaly Elbow ankylosis Abnormality of the thorax Broad phalanx Shortening of all middle phalanges of the fingers Back pain Increased susceptibility to fractures Short middle phalanx of toe Abnormality of pelvic girdle bone morphology Sleep apnea Osteolysis Cartilaginous trachea Abnormality of the fingernails Pain Anemia Hyperlordosis Abnormality of dental morphology Short distal phalanx of finger Delayed eruption of teeth Postural instability Narrow palate Hypodontia Prominent nose Growth hormone deficiency Small nail Wormian bones Abnormality of the nail Abnormality of the face Increased bone mineral density Abnormality of epiphysis morphology Short toe Long hallux Bronchomalacia Proportionate short stature Otitis media Bone pain Inflammatory abnormality of the eye Abnormal sacrum morphology Membranous nephropathy Osteopetrosis Short uvula Low-set ears Abnormality of the clavicle Syndactyly Abnormality of the vertebral column Dilatation Polydactyly Finger syndactyly Toe syndactyly Broad thumb Anterior plagiocephaly Dental crowding Short thumb Atresia of the external auditory canal Preaxial polydactyly Broad hallux Natal tooth Ankylosis Shallow orbits Agenesis of permanent teeth Tracheal stenosis Oxycephaly Prominent occiput Abnormal common carotid artery morphology Osteomyelitis Aortic arch calcification Aortic regurgitation Hypometric horizontal saccades Vertebral wedging Gastroesophageal reflux Agenesis of corpus callosum Intrauterine growth retardation Growth delay Plantar pits Palmar pits Abnormality of the sense of smell Postnatal growth retardation Abnormality of the neck Vertebral fusion Hemivertebrae Hypogonadotrophic hypogonadism Cerebral calcification Iris coloboma Osteopenia Protruding ear Glaucoma Redundant skin Ataxia Abnormal glycosylation Narrow nasal ridge Colpocephaly Prominent superficial veins Premature skin wrinkling Growth abnormality Hip dislocation Cutis laxa Congenital hip dislocation Large fontanelles Bowing of the long bones Hypotelorism Triangular face Joint hypermobility Telecanthus Cataract Muscular hypotonia Thick eyebrow Duplication of thumb phalanx Mild microcephaly Cerebellar vermis hypoplasia Dandy-Walker malformation Highly arched eyebrow Everted lower lip vermilion Developmental regression Dystonia Aggressive behavior Autism Hyperactivity Upslanted palpebral fissure Absent speech Behavioral abnormality Ventricular septal defect Microphthalmia Neoplasm Tetraparesis Hypoplastic left atrium Bicornuate uterus Anophthalmia Spastic tetraparesis Short chin Short palpebral fissure Congenital diaphragmatic hernia Hernia Chorea Broad nasal tip Pulmonary hypoplasia Severe global developmental delay Sparse hair Muscular hypotonia of the trunk Retrognathia Nystagmus Short neck Slowed horizontal saccades Heart murmur Supranuclear gaze palsy Communicating hydrocephalus Mitral stenosis Abnormal EKG Abnormal heart valve morphology Exertional dyspnea Cachexia Abnormal mitral valve morphology Oculomotor apraxia Opacification of the corneal stroma Horizontal nystagmus Aortic valve stenosis Decreased body weight Mitral regurgitation Foam cells Abnormal aortic valve morphology Pancytopenia Abnormal aortic arch morphology Cardiac valve calcification Abnormality of toe Decreased beta-glucocerebrosidase protein and activity Bacterial endocarditis Calcification of the aorta Elevated serum acid phosphatase Spontaneous, recurrent epistaxis Abnormality of the pulmonary artery Supranuclear ophthalmoplegia Mitral valve calcification Corneal crystals Abnormal saccadic eye movements Aortic valve calcification Reticular hyperpigmentation Abnormal aortic morphology Ventricular hypertrophy Cardiomegaly Hypoplasia of the corpus callosum Low posterior hairline Flared metaphysis Spondyloepiphyseal dysplasia Metaphyseal irregularity Infantile muscular hypotonia Low anterior hairline Thick lower lip vermilion Thick vermilion border Irregular vertebral endplates Hirsutism Flat face Confusion Platyspondyly Cerebral atrophy Intellectual disability, severe Short femoral neck Flat acetabular roof Ophthalmoplegia Congestive heart failure Generalized tonic-clonic seizures Corneal opacity Pallor Pes cavus Hyporeflexia Hypertonia Respiratory distress Spondyloepimetaphyseal dysplasia Small basal ganglia Posterior scalloping of vertebral bodies Metaphyseal striations Long fibula Carpal bone hypoplasia Irregular epiphyses Small epiphyses Abnormal pelvis bone ossification


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