Hydrocephalus, and Clinodactyly of the 5th finger

Diseases related with Hydrocephalus and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.


Top matches:

High match MASA SYNDROME


MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

High match METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Medium match OROFACIODIGITAL SYNDROME TYPE 2


Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

OROFACIODIGITAL SYNDROME TYPE 2 Is also known as oral-facial-digital syndrome, type ii|ofd2|orofaciodigital syndrome ii|oral-facial-digital syndrome type 2|ofds ii|mohr syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 2

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Other less relevant matches:

Medium match 6Q25 MICRODELETION SYNDROME


6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Medium match PELVISCAPULAR DYSPLASIA


Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

PELVISCAPULAR DYSPLASIA Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|cousin syndrome|pelviscapular dysplasia

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PELVISCAPULAR DYSPLASIA

Medium 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

Medium match DESMOSTEROLOSIS


Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Medium 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

Medium match LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Medium match MICROPHTHALMIA WITH LIMB ANOMALIES


Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES

Top 5 symptoms//phenotypes associated to Hydrocephalus and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hydrocephalus and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


High palate Abnormality of the skeletal system Depressed nasal bridge Abnormal facial shape Agenesis of corpus callosum Hearing impairment Generalized hypotonia Seizures Failure to thrive Hypertelorism Microcephaly Strabismus Malar flattening Toe syndactyly Low-set, posteriorly rotated ears Brachydactyly Patent ductus arteriosus Long philtrum Severe short stature Joint laxity Intrauterine growth retardation Macrocephaly Interphalangeal joint contracture of finger Microphthalmia Clinodactyly Skeletal dysplasia Short nose Postaxial hand polydactyly Bifid uvula Posteriorly rotated ears Micromelia Anteverted nares Limb undergrowth Hip dislocation Downslanted palpebral fissures Wide nasal bridge Kyphosis Joint contracture of the hand Prominent forehead Ventriculomegaly Muscular hypotonia Camptodactyly of finger Epicanthus Sensorineural hearing impairment Low-set ears Pes planus Dolichocephaly Joint hyperflexibility Growth delay

Rare Symptoms - Less than 30% cases


Abnormality of the pinna Pectus excavatum Syndactyly Atrial septal defect Mild short stature Broad thumb Respiratory distress Rhizomelia Congenital hip dislocation Large earlobe Abnormal heart morphology Camptodactyly Facial asymmetry Telecanthus Blepharophimosis Postaxial foot polydactyly Hydronephrosis Deeply set eye Hypoplasia of the maxilla Intellectual disability, moderate Triangular face Mitral valve prolapse Short palpebral fissure Redundant skin Rocker bottom foot Cryptorchidism Thin vermilion border Short neck Ambiguous genitalia, male Flexion contracture Bulbous nose Microretrognathia Cataract Short ribs Abnormal form of the vertebral bodies Abnormality of the metaphysis Osteoarthritis Confusion Arthrogryposis multiplex congenita Hypoplastic pubic bone Dilatation Hypospadias Joint hypermobility Retrognathia Broad forehead Kyphoscoliosis Midface retrusion Alveolar ridge overgrowth Finger clinodactyly Ambiguous genitalia, female Long thorax Short long bone Joint dislocation Hyperlordosis Intellectual disability, mild Spasticity Muscle stiffness Hypoplastic ischia Talipes Rigidity Anxiety Abnormality of the elbow Aggressive behavior Short 5th finger Autism Hyperactivity Attention deficit hyperactivity disorder Abnormality of the cerebral vasculature Hypoplastic pelvis Feeding difficulties Autistic behavior Narrow mouth Enlarged thorax Horizontal ribs Increased vertebral height Splenomegaly Abnormal cardiac septum morphology Nystagmus Hypertonia Hypoplasia of the corpus callosum Abnormality of neuronal migration Hypoplastic nasal bridge Inguinal hernia Renal hypoplasia/aplasia Partial agenesis of the corpus callosum Aplasia/Hypoplasia of the skin Absent septum pellucidum Metatarsus adductus Submucous cleft hard palate Osteopetrosis Abnormal cortical gyration Abnormality of the nose Generalized osteosclerosis Cupped ear Anomalous pulmonary venous return Dermal atrophy Relative macrocephaly Gingival fibromatosis Aplasia/Hypoplasia of the corpus callosum Polymicrogyria Macrogyria Depressivity Intestinal malrotation Behavioral abnormality 2-4 toe syndactyly Bilateral talipes equinovarus Abnormality of cholesterol metabolism Total anomalous pulmonary venous return Abnormality of earlobe Renal agenesis Ambiguous genitalia Status epilepticus Pachygyria Increased bone mineral density Lissencephaly Iris coloboma Craniosynostosis Short foot Hypopigmentation of the skin Elbow dislocation Anosmia Abnormality of the metacarpal bones Hypopigmented skin patches Sandal gap Horseshoe kidney Bilateral single transverse palmar creases Aganglionic megacolon Bowing of the long bones Cleft upper lip Tibial bowing Finger syndactyly Hypogonadism Intellectual disability, severe Optic atrophy Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Pulmonary artery aneurysm Multiple suture craniosynostosis Premature graying of hair Tarsal synostosis Ascending aortic dissection Intestinal pseudo-obstruction Camptodactyly of 2nd-5th fingers Lacrimal gland hypoplasia Hypoplasia of the premaxilla Synostosis of joints White eyebrow Foot oligodactyly White eyelashes Macrodontia Arrhinencephaly Hand oligodactyly Venous insufficiency Fibular hypoplasia White forelock Abnormality of the thumb Abnormality of the upper limb White hair Abnormality of the lower limb Heterochromia iridis Blue irides Short tibia Abnormal eyebrow morphology Synostosis of carpal bones Cystic medial necrosis Dural ectasia Sleep disturbance Ankyloglossia Eczema Asthma Bruising susceptibility Arachnodactyly Pectus carinatum Disproportionate short stature Proptosis Hernia Myopia Ptosis Interrupted aortic arch Mitral regurgitation Broad hallux phalanx Truncus arteriosus Foot polydactyly Transposition of the great arteries High hypermetropia Broad hallux Hand polydactyly Schizophrenia Coarctation of aorta Vesicoureteral reflux Blue sclerae Exotropia Unilateral ptosis Scaphocephaly Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency Long toe Sagittal craniosynostosis Spondylolisthesis High anterior hairline Narrow nose Soft skin Dilatation of the cerebral artery Bicuspid aortic valve Rhinitis Aortic root aneurysm Abnormality of the sternum Atrophic scars Disproportionate tall stature Hallux valgus Myopathic facies Aortic aneurysm Ectopia lentis Arnold-Chiari malformation Thin ribs Stenosis of the external auditory canal Slender long bone Hypoplastic cervical vertebrae Dumbbell-shaped metaphyses Long coccyx Abnormal metaphyseal vascular invasion Relatively short spine Snail-like ilia Flared humeral metaphysis Short diaphyses Flared femoral metaphysis Hyperplasia of the femoral trochanters Anisospondyly Abnormal enchondral ossification Cervical instability Severe platyspondyly Pseudoarthrosis Caudal appendage Abnormality of the intervertebral disk Thoracic kyphoscoliosis Halberd-shaped pelvis Absent primary metaphyseal spongiosa Spondylometaphyseal dysplasia Tachypnea Median cleft lip Natal tooth Abnormality of digit Atrioventricular canal defect Flared metaphysis Preaxial hand polydactyly Metaphyseal irregularity Preaxial polydactyly Wormian bones Cerebellar atrophy Broad nasal tip Abnormal cerebellum morphology Postaxial polydactyly Short palm Apnea Cleft lip Conductive hearing impairment Polydactyly Rough bone trabeculation Enlarged joints Abnormality of finger Lumbar hyperlordosis Hyperactive deep tendon reflexes Progressive spasticity Aphasia Hemiplegia/hemiparesis Adducted thumb Spastic paraparesis Paraparesis Paraplegia Shuffling gait Spastic paraplegia Abnormality of the nervous system Pes cavus Babinski sign Gait disturbance Hyperreflexia Delayed speech and language development Cognitive impairment Down-sloping shoulders Aqueductal stenosis Flared iliac wings Epiphyseal dysplasia Abnormal cortical bone morphology Fetal akinesia sequence Aplasia/Hypoplasia of the lungs Hypoplasia of the odontoid process Abnormal joint morphology Short finger Multiple joint contractures Akinesia Abnormality of the ribs Hand clenching Peripheral axonal neuropathy Narrow chest Platyspondyly Joint stiffness High forehead Respiratory failure Respiratory insufficiency Severe hydrocephalus Arachnoid cyst Bifid tongue Decreased fertility Humeroradial synostosis Prominent protruding coccyx Abnormality of the skull base Mesomelic leg shortening Microtia, first degree Facial hirsutism 4-5 toe syndactyly Long clavicles Wrist flexion contracture Anterior rounding of vertebral bodies Hydranencephaly Fibular aplasia Redundant neck skin Hypoplastic ilia Short femur Hypoplastic iliac wing Hypoplastic scapulae Microglossia Absent proximal finger flexion creases Abnormality of the joint spaces of the elbow Dislocated radial head Thick lower lip vermilion Short thorax Hypoplasia of the ulna Neonatal respiratory distress Spina bifida occulta Scapular winging Abnormality of dental enamel Pointed chin Narrow face Decreased testicular size Delayed skeletal maturation Delayed eruption of teeth Everted lower lip vermilion Thick vermilion border Thick eyebrow Small for gestational age Protruding ear Postnatal growth retardation Mandibular prognathia Bell-shaped thorax Mesomelia Preaxial foot polydactyly Tongue nodules Upslanted palpebral fissure Abnormality of cardiovascular system morphology Ventricular septal defect Partial duplication of the phalanges of the hallux Agenesis of central incisor Talon cusp Mesoaxial polydactyly Hypoplasia of the epiglottis Neonatal hypotonia Common atrium Lobulated tongue Bilateral postaxial polydactyly Accessory oral frenulum Porencephalic cyst Complete atrioventricular canal defect Abnormality of the larynx Bifid nasal tip Thin upper lip vermilion Abnormality of the eye 2-3 toe syndactyly Anteriorly placed anus Narrow palpebral fissure Elbow flexion contracture Low posterior hairline Microcornea Abnormality of nervous system morphology Secundum atrial septal defect Ventricular extrasystoles Shallow orbits External genital hypoplasia Wide mouth Thoracic hypoplasia Tricuspid regurgitation Patent foramen ovale Abnormality of vision Plagiocephaly Full cheeks Small hand Smooth philtrum True anophthalmia



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