Hydrocephalus, and Syndactyly

Diseases related with Hydrocephalus and Syndactyly

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


Top matches:

Low match MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2


MPPH2 is an overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP ) (summary by Gripp et al., 2009).For a discussion of genetic heterogeneity of MPPH, see {603387}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Macrocephaly
  • Ventriculomegaly
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2

Low match FRASER SYNDROME 2; FRASRS2


Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see {219000}.

Related symptoms:

  • Hydrocephalus
  • Syndactyly
  • Narrow mouth
  • Anal atresia
  • Pulmonary hypoplasia


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 2; FRASRS2

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

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Other less relevant matches:

Low match SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

Low match FRASER SYNDROME 3; FRASRS3


Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see {219000}.

Related symptoms:

  • Micrognathia
  • Hydrocephalus
  • Syndactyly
  • Abnormality of the pinna
  • Wide nose


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRASER SYNDROME 3; FRASRS3

Low match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Low match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Low match JACKSON-WEISS SYNDROME; JWS


JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

Low match FUHRMANN SYNDROME


Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.

FUHRMANN SYNDROME Is also known as fuhrmann syndrome|fuhrmann-rieger-de sousa syndrome|fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome

Related symptoms:

  • Short stature
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FUHRMANN SYNDROME

Low match PFEIFFER SYNDROME TYPE 2


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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Syndactyly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Finger syndactyly Uncommon - Between 30% and 50% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Hypertelorism High forehead Proptosis Abnormality of the pinna Midface retrusion Abnormality of the skeletal system Postaxial polydactyly Convex nasal ridge Depressed nasal bridge Cleft lip Toe syndactyly

Rare Symptoms - Less than 30% cases


Low-set ears Frontal bossing Cloverleaf skull Seizures Craniofacial dysostosis Brachydactyly Global developmental delay Craniosynostosis Micromelia Oral cleft Intestinal malrotation Hallux varus Micrognathia Scrotal hypoplasia Deeply set eye Broad hallux phalanx Limitation of joint mobility Renal agenesis Anal atresia Macrocephaly Hypoplasia of the bladder Cryptophthalmos Bilateral renal agenesis Cutaneous syndactyly Ambiguous genitalia Polymicrogyria Cutis marmorata Postaxial hand polydactyly Arnold-Chiari malformation Short stature Flexion contracture Mandibular prognathia Talipes equinovarus Shallow orbits Clinodactyly Nail dysplasia Headache Amenorrhea Ptosis Limb undergrowth Calcaneonavicular fusion Hypoplasia of the maxilla Broad metatarsal Anterior plagiocephaly Abnormality of fibula morphology Genu valgum Underdeveloped supraorbital ridges Epidermal acanthosis Acanthosis nigricans Symphalangism affecting the phalanges of the hand Abnormal palate morphology Short metatarsal Preaxial foot polydactyly Turricephaly 2-3 toe syndactyly Split foot Broad hallux Bowing of the long bones Aplasia/Hypoplasia of the ulna Congenital hip dislocation Short foot Coalescence of tarsal bones Aplasia/Hypoplasia of the 5th finger High palate Respiratory distress Short nose Visual loss Small hand Choanal atresia Abnormal finger flexion creases Broad thumb Increased intracranial pressure Laryngomalacia Atresia of the external auditory canal Tracheomalacia Short hallux Aqueductal stenosis Aplasia/Hypoplasia of metatarsal bones Aplasia/Hypoplasia of the phalanges of the hand Hypoplasia of the radius Communicating hydrocephalus Femoral bowing Short finger Ulnar deviation of finger Oligodactyly Radial bowing Hypoplastic iliac wing Hypoplastic pelvis Patellar aplasia Aplasia/hypoplasia of the femur Hand oligodactyly Fibular aplasia Asymmetric growth Absent toenail Foot oligodactyly Aplasia/Hypoplasia of the fibula Aplasia/Hypoplasia involving the metacarpal bones Strabismus Neoplasm Abnormality of nervous system morphology Polycystic kidney dysplasia Epicanthus Respiratory insufficiency Thin upper lip vermilion Platyspondyly Narrow chest Short ribs Preaxial polydactyly Recurrent corneal erosions Cystic hygroma Thoracic dysplasia Hypoplastic ischia Vertebral wedging Wide nose Oligohydramnios Elbow ankylosis Amniotic constriction ring Abnormal lung lobation Narrow mouth Hypoplasia of the corpus callosum Overgrowth Hyperextensible skin Megalencephaly Capillary malformation Hemimegalencephaly Pulmonary hypoplasia Abnormal form of the vertebral bodies Abdominal distention Underdeveloped nasal alae Renal hypoplasia Short thorax Cognitive impairment Skeletal dysplasia Low-set, posteriorly rotated ears Short toe Abnormal facial shape Visceral angiomatosis Hand polydactyly Abnormality of cardiovascular system morphology Arrhythmia Wide mouth Facial asymmetry Joint hyperflexibility Full cheeks Aplasia/Hypoplasia of the cerebellum Muscular hypotonia Hypermelanotic macule Telangiectasia of the skin Foot polydactyly Nevus flammeus Arteriovenous malformation Cerebral ischemia Optic atrophy Failure to thrive Cryptorchidism Sandal gap Wide nasal bridge Hypospadias Agenesis of corpus callosum Micropenis Cleft upper lip Wide intermamillary distance Holoprosencephaly Ulnar deviation of the hand or of fingers of the hand Aplasia/Hypoplasia of the corpus callosum Adrenal hypoplasia Depressed nasal tip Barrel-shaped chest Shield chest Ulnar deviation of the hand Microphallus Deviation of the thumb



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