Hydrocephalus, and Bulbous nose

Diseases related with Hydrocephalus and Bulbous nose

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


Top matches:

High match SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52


Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B


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

High match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE


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

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Other less relevant matches:

High match HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2


Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

High match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

High match 3M SYNDROME


3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

High match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

High match LETHAL OSTEOSCLEROTIC BONE DYSPLASIA


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

High match 1Q21.1 MICRODELETION SYNDROME


1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

High match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Bulbous nose

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Intrauterine growth retardation Midface retrusion Strabismus Posteriorly rotated ears Protruding ear Depressed nasal bridge Hypertelorism Scoliosis Frontal bossing Abnormality of the skeletal system Agenesis of corpus callosum High palate Deeply set eye Joint laxity Thick vermilion border Joint hypermobility Brachydactyly Macrocephaly Hypoplasia of the corpus callosum Micrognathia Depressivity Mandibular prognathia Brachycephaly Prominent forehead Abnormal cardiac septum morphology Long philtrum Malar flattening Visual impairment Short neck Muscular hypotonia Downslanted palpebral fissures Cerebral atrophy Skeletal dysplasia Wide anterior fontanel Cataract Joint hyperflexibility Failure to thrive Hearing impairment Hypertonia Motor delay Growth delay Muscular hypotonia of the trunk Low-set ears

Rare Symptoms - Less than 30% cases


Confusion Wide intermamillary distance Optic atrophy Intellectual disability, severe Sensorineural hearing impairment Cryptorchidism Hyperactivity Aggressive behavior Aplasia cutis congenita of scalp Broad hallux Toe syndactyly Aplasia cutis congenita Narrow palpebral fissure Low anterior hairline Thick lower lip vermilion Wide nose Talipes equinovarus Polyhydramnios Cerebellar hypoplasia Flexion contracture Retrognathia Polymicrogyria Alopecia Patent ductus arteriosus Retinal detachment Vesicoureteral reflux Spasticity Macular hypoplasia Wide nasal bridge Narrow face Hydronephrosis Microretrognathia Microdontia Dandy-Walker malformation Iris coloboma Pulmonary hypoplasia Cleft palate Single transverse palmar crease Colpocephaly Pectus excavatum Short foot Clinodactyly of the 5th finger Microphthalmia Postnatal growth retardation Dilatation Wide mouth Large fontanelles Short nose Bowing of the long bones Triangular face Hip dislocation Congenital cataract Congenital hip dislocation Respiratory distress Anteverted nares Ataxia Cerebral palsy Micromelia Broad forehead Nystagmus Apnea Syndactyly Coarse facial features Blue sclerae Highly arched eyebrow Slender long bone Downturned corners of mouth Arthrogryposis multiplex congenita Dyspnea Abnormality of the cerebral vasculature Proptosis Hypoplastic pelvis Horizontal ribs Enlarged thorax Macroglossia Cerebral calcification Hypoplastic ischia Depressed nasal ridge Choanal atresia Hypoplastic pubic bone Increased vertebral height Delayed speech and language development Hypoplasia of dental enamel Narrow mouth Retinal nonattachment Respiratory failure Retrocerebellar cyst Gliosis Thin ribs Oligohydramnios Small nail Lymphedema Cutis marmorata Short finger Corpus callosum atrophy Periventricular leukomalacia Retinal fold Short distal phalanx of finger Short 5th finger High-pitched cry Cutis marmorata telangiectatica congenita Adactyly Abnormality of the nervous system Abnormal heart morphology Disproportionate short stature Abnormality of the elbow Decreased fertility Dysphagia Respiratory insufficiency Abnormality of the dentition Dermal atrophy Alveolar ridge overgrowth Gingival overgrowth Congestive heart failure Ichthyosis Smooth philtrum Prominent nasal bridge Low-set, posteriorly rotated ears Cerebral cortical atrophy Polydactyly Ventricular septal defect Hypopigmentation of the skin Ankyloglossia Interrupted aortic arch Broad hallux phalanx Truncus arteriosus Foot polydactyly Transposition of the great arteries High hypermetropia Long face Esotropia Schizophrenia Epiphyseal stippling Hypoplastic aortic arch Spotty hypopigmentation Long neck Otosclerosis Overlapping fingers Narrow nose Long fingers Narrow forehead Ectopic kidney Overlapping toe 2-3 toe syndactyly Self-injurious behavior Overfolded helix Sacral dimple Aortic valve stenosis Hand polydactyly Broad thumb Increased bone mineral density Thoracic hypoplasia Choanal stenosis Osteopetrosis Obstructive sleep apnea Protruding tongue Natal tooth Mixed hearing impairment Delayed cranial suture closure Gingival fibromatosis Hydroureter Hypophosphatemia Elevated alkaline phosphatase Abnormality of the genitourinary system Sleep apnea Plagiocephaly Narrow palate Generalized osteosclerosis Median cleft lip and palate Coarctation of aorta Inguinal hernia Sleep disturbance Attention deficit hyperactivity disorder Autistic behavior Intellectual disability, moderate Anxiety Autism Behavioral abnormality Long hallux Hypoplastic nasal bridge Craniofacial disproportion Mild short stature Metaphyseal sclerosis Bilateral choanal atresia Mandibular aplasia Brachyturricephaly Short thorax Acute lymphoblastic leukemia Hypoplasia of the ulna Narrow iliac wings Hirsutism Abnormality of the skin Low posterior hairline Infantile muscular hypotonia Metaphyseal irregularity Spondyloepiphyseal dysplasia Flared metaphysis Short femoral neck Irregular vertebral endplates Flat acetabular roof Spondyloepimetaphyseal dysplasia Small epiphyses Irregular epiphyses Carpal bone hypoplasia Long fibula Synophrys Metaphyseal striations Posterior scalloping of vertebral bodies Small basal ganglia Atrial septal defect Hernia Cleft lip Coloboma Facial asymmetry Hepatic failure Intestinal malrotation Congenital diaphragmatic hernia Cholestasis Heterotopia Lissencephaly Flat face Platyspondyly Cortical gyral simplification Facial hypotonia Hyperreflexia Absent speech Babinski sign Neonatal hypotonia Short philtrum Spastic paraplegia Paraplegia Talipes Tetraplegia Prominent nose Focal-onset seizure Febrile seizures Spastic tetraplegia Spastic diplegia Loss of ability to walk Abnormality of the pinna Growth abnormality Cognitive impairment Abnormal glycosylation Narrow nasal ridge Prominent superficial veins Premature skin wrinkling Redundant skin Cutis laxa Simple febrile seizures Hypotelorism Hypoplasia of the maxilla Recurrent fractures Osteopenia Gastroesophageal reflux Osteoporosis Relative macrocephaly Communicating hydrocephalus Rocker bottom foot Pes planus Lymphangioma Phthisis bulbi Abnormal vitreous humor morphology Cerebellar malformation Exudative retinal detachment Peripapillary atrophy Occipital meningocele Bifid ureter Cephalocele Kyphosis Hypospadias Clinodactyly Delayed skeletal maturation Severe short stature Hyperlordosis Lens luxation Pointed chin Neonatal respiratory distress Short long bone Spina bifida occulta Scapular winging Joint dislocation Abnormality of dental enamel Short ribs Small for gestational age Abnormality of the metaphysis Decreased testicular size Delayed eruption of teeth Everted lower lip vermilion Thick eyebrow Dolichocephaly Band keratopathy Total anomalous pulmonary venous return Abnormal cortical gyration Encephalocele Severe hydrocephalus Periventricular gray matter heterotopia Myopia Blindness Cerebellar atrophy Visual loss Glaucoma Mental deterioration Nyctalopia Leukemia Retinal degeneration Progressive visual loss High myopia Thin skin Pachygyria Anomalous pulmonary venous return Chorioretinal atrophy Large forehead Calvarial skull defect Vitreoretinopathy Meningocele Occipital encephalocele Absent septum pellucidum Cortical dysplasia Abnormality of the hair Dextrocardia Ectopia lentis Pyloric stenosis Corneal dystrophy Macular degeneration Horizontal nystagmus Olivopontocerebellar hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Joint hypermobility, related diseases and genetic alterations Wide nasal bridge and Lactic acidosis, related diseases and genetic alterations Obesity and Hypopigmentation of the skin, related diseases and genetic alterations Cognitive impairment and Amenorrhea, related diseases and genetic alterations Breast carcinoma and Osteoporosis, related diseases and genetic alterations Cleft palate and Hyperreflexia, related diseases and genetic alterations Anemia and Proximal muscle weakness, related diseases and genetic alterations

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