Hydrocephalus, and Choanal atresia

Diseases related with Hydrocephalus and Choanal atresia

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

Top matches:

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

Medium match TETRA-AMELIA

Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndromeTetraamelia syndrome-2 (TETAMS2 ) is caused by mutation in the RSPO2 gene (OMIM ) on chromosome 8q23.

TETRA-AMELIA Is also known as total amelia|tetraamelia syndrome, autosomal recessive

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cataract
  • Low-set ears
  • Hydrocephalus


SOURCES: OMIM ORPHANET MENDELIAN

More info about TETRA-AMELIA

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

Other less relevant matches:

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 APERT SYNDROME

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about APERT SYNDROME

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

Medium match CROUZON DISEASE

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Top 5 symptoms//phenotypes associated to Hydrocephalus and Choanal atresia

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Proptosis Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cloverleaf skull Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Arnold-Chiari malformation

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Choanal stenosis

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate Hypoplasia of the maxilla Conductive hearing impairment Craniosynostosis Malar flattening Mandibular prognathia Visual impairment Abnormality of the dentition Optic atrophy Convex nasal ridge Hearing impairment Brachyturricephaly Short stature Craniofacial dysostosis Respiratory insufficiency Acanthosis nigricans Brachycephaly Narrow palate Frontal bossing Global developmental delay Low-set ears Respiratory distress High forehead Toe syndactyly Ptosis Brachydactyly High palate Coronal craniosynostosis Short nose Epidermal acanthosis Melanocytic nevus Turricephaly Finger syndactyly Anal atresia Agenesis of corpus callosum Natal tooth Broad thumb Micrognathia Increased intracranial pressure Atresia of the external auditory canal Bicoronal synostosis

Rare Symptoms - Less than 30% cases

Long philtrum Hypoplasia of dental enamel Reduced number of teeth Abnormality of the genitourinary system Bilateral choanal atresia Esophageal atresia Wide anterior fontanel Apnea Respiratory failure Dental crowding Lambdoidal craniosynostosis Ventriculomegaly Sleep apnea Prominent forehead Abnormal facial shape Abnormality of the skull Gingival overgrowth Narrow mouth Anteverted nares Large fontanelles Micromelia Hypertension Humeroradial synostosis Sensorineural hearing impairment Cartilaginous trachea Long hallux Oxycephaly Shallow orbits Broad forehead Abnormal sacrum morphology Seizures Posteriorly rotated ears Microdontia Dental malocclusion Umbilical hernia Scoliosis Laryngomalacia Pulmonary hypoplasia Cleft lip Visual loss Vaginal atresia Hypoplasia of the zygomatic bone Skin tags Confusion Limitation of joint mobility Hearing abnormality Underdeveloped supraorbital ridges Anteriorly placed anus Limited elbow extension Bifid scrotum Breech presentation Aplasia/Hypoplasia of the earlobes Abnormality of the pancreas Abnormality of vision Redundant neck skin Thickened helices Visceral angiomatosis Palmoplantar cutis laxa Prominent umbilicus Prominent scrotal raphe Palmoplantar cutis gyrata Preauricular skin furrow Short foot Headache Cerebellar hypoplasia Redundant skin Subcutaneous nodule Abnormality of the nail Cervical C5/C6 vertebrae fusion Flat face Delayed eruption of teeth Bifid uvula Broad hallux phalanx Short hallux Vertebral segmentation defect Absent septum pellucidum Ovarian neoplasm Aplasia/Hypoplasia of the thumb Corneal erosion Ectopic anus Morphological abnormality of the semicircular canal Acrobrachycephaly Intestinal malrotation Cryptorchidism Tracheomalacia Macrotia Low-set, posteriorly rotated ears Abnormality of the eye Prominent nasal bridge Dolichocephaly Palmoplantar keratoderma Overgrowth Small nail Abnormality of the face Delayed puberty Small hand Primary amenorrhea Iris coloboma Hydroureter Arthrogryposis multiplex congenita Bulbous nose Downturned corners of mouth Highly arched eyebrow Macroglossia Cerebral calcification Depressed nasal ridge Bowing of the long bones Increased bone mineral density Plagiocephaly Elevated alkaline phosphatase Hypophosphatemia Delayed cranial suture closure Protruding ear Thoracic hypoplasia Mixed hearing impairment Protruding tongue Obstructive sleep apnea Osteopetrosis Generalized osteosclerosis Gingival fibromatosis Median cleft lip and palate Mandibular aplasia Metaphyseal sclerosis Alveolar ridge overgrowth Craniofacial disproportion Wide mouth Hydronephrosis Amenorrhea Sagittal craniosynostosis Facial asymmetry Amblyopia Conjunctivitis Torticollis Hypopigmented skin patches Trigonocephaly Keratitis Gonadal dysgenesis Syringomyelia Scaphocephaly Papilledema Gonadoblastoma Abnormality of the cervical spine Retrognathia Short upper lip Abnormality of the nasopharynx Dysgerminoma Multiple suture craniosynostosis Narrow internal auditory canal Microcephaly Intrauterine growth retardation Macrocephaly Dysphagia Short neck Depressivity Pectus excavatum Dyspnea Aqueductal stenosis Deviation of the thumb Feeding difficulties in infancy Malnutrition Camptodactyly Abnormality of the skeletal system Abnormality of the pinna Respiratory tract infection Wide nasal bridge Narrow chest Arachnodactyly Progressive neurologic deterioration Muscle weakness Radioulnar synostosis Rocker bottom foot Multiple joint contractures Femoral bowing Kyphosis Slender finger Peripheral pulmonary vessel aplasia Adrenal gland agenesis Stenosis of the external auditory canal Hypoplasia of the fallopian tube Hypoplastic labia majora Upper airway obstruction Abnormal renal morphology Tetraphocomelia Single naris Ulnar bowing Narrow iliac wings Blindness Recurrent respiratory infections Pear-shaped nose Megalocornea Microcornea Hypodontia Short philtrum Growth hormone deficiency Telecanthus Thin upper lip vermilion Slurred speech Prominent supraorbital ridges Myotonia Abnormality of dental morphology Anal stenosis Aniridia Posterior embryotoxon Hernia Hypoplasia of the iris Anterior synechiae of the anterior chamber Abnormality of the abdominal wall Rieger anomaly Polycoria Glaucoma Axenfeld anomaly Abnormally prominent line of Schwalbe Flexion contracture Inguinal hernia Atrial septal defect Hypospadias Narrow pelvis bone Tetraamelia Abnormality of cardiovascular system morphology Ankylosis Membranous nephropathy Short uvula Syndactyly Dilatation Polydactyly Renal agenesis Wide nose Otitis media Short thumb Preaxial polydactyly Broad hallux Oral cleft Cleft upper lip Renal dysplasia Tracheal stenosis Anterior plagiocephaly Bronchomalacia Patent ductus arteriosus Elbow ankylosis Broad phalanx Shortening of all middle phalanges of the fingers Short middle phalanx of toe Microphthalmia Cataract Everted lower lip vermilion Hallux varus Abnormality of the genital system Anencephaly Fused labia minora Nevus Failure to thrive Absent external genitalia Feeding difficulties Amelia Urethral atresia Abnormality of the diaphragm Gastroschisis Phocomelia Renal insufficiency Long penis Dry skin Hypopigmentation of the skin Migraine Inflammatory abnormality of the eye Short metacarpal Amniotic constriction ring Hypoplastic pelvis Abnormal form of the vertebral bodies Asplenia Abnormal palate morphology Abnormality of the metacarpal bones Glomerulonephritis Single umbilical artery Aplasia/Hypoplasia of the cerebellum Proportionate short stature Bilateral cleft lip Hypoplastic nasal bridge


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