Hydrocephalus, and Platyspondyly

Diseases related with Hydrocephalus and Platyspondyly

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


Top matches:

Medium 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

Medium match COLE-CARPENTER SYNDROME 2; CLCRP2


Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Medium match X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE


X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match THANATOPHORIC DYSPLASIA TYPE 1


Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

Medium match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Medium 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

Medium match SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME


Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Medium 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 THANATOPHORIC DYSPLASIA, TYPE I; TD1


Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia|lethal short-limbed platyspondylic dwarfism, san diego type|thanatophoric dwarfism|td|platyspondylic lethal skeletal dysplasia, san diego type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1

Medium match SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6


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, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Top 5 symptoms//phenotypes associated to Hydrocephalus and Platyspondyly

Symptoms // Phenotype % cases
Skeletal dysplasia Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micromelia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Narrow chest

Uncommon Symptoms - Between 30% and 50% cases


Kyphosis

Common Symptoms - More than 50% cases


Respiratory insufficiency

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly

Common Symptoms - More than 50% cases


Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Short ribs Seizures Depressed nasal bridge Severe short stature Atrial septal defect Proptosis Redundant skin Acanthosis nigricans Flat face Cloverleaf skull Aplasia/Hypoplasia of the lungs Muscular hypotonia Abnormality of the metaphysis Short femur Hypoplastic ilia Increased nuchal translucency Short sacroiliac notch Severe platyspondyly Intellectual disability Femoral bowing Wide anterior fontanel Abnormality of the skeletal system Joint stiffness Abnormality of the kidney Polyhydramnios Patent ductus arteriosus Lethal short-limbed short stature Craniosynostosis Metaphyseal irregularity Flared metaphysis Global developmental delay Midface retrusion

Rare Symptoms - Less than 30% cases


Decreased fetal movement Confusion Prominent forehead Brachycephaly Epicanthus Limb undergrowth Spondylometaphyseal dysplasia Intellectual disability, severe Respiratory failure Cleft palate Epidermal acanthosis Megalencephaly Split hand Hypoplasia of the corpus callosum Heterotopia Bowing of the long bones Disproportionate short-limb short stature Microcephaly Generalized hypotonia Wide-cupped costochondral junctions Small abnormally formed scapulae Small foramen magnum Severe short-limb dwarfism Small face Excessive wrinkled skin Abnormality of neuronal migration Cognitive impairment Hypertelorism Intellectual disability, profound Mesomelia Cleft lip Thoracic dysplasia Motor delay Polycystic kidney dysplasia Intestinal malrotation Thin ribs Narrow iliac wings Growth delay Oral cleft Decreased skull ossification Polydactyly Rhizomelia Metaphyseal chondrodysplasia Polysyndactyly of hallux Fetal akinesia sequence Abnormal cortical bone morphology Flared iliac wings Enlarged joints Shortening of the tibia Rough bone trabeculation Thoracic kyphoscoliosis Abnormal joint morphology Long thorax Abnormality of the intervertebral disk Fibular bowing Pancreatic fibrosis Hypoplasia of the epiglottis Caudal appendage Central apnea Postaxial polysyndactyly of foot Hamartoma of tongue Hypoplasia of the odontoid process Multiple joint contractures Short finger Peripheral axonal neuropathy Flexion contracture Clinodactyly of the 5th finger High forehead Scoliosis Kyphoscoliosis Low-set, posteriorly rotated ears Camptodactyly of finger Arthrogryposis multiplex congenita Enlarged cerebellum Cataract Abnormality of the ribs Interphalangeal joint contracture of finger Cervical instability Osteoarthritis Abnormal form of the vertebral bodies Aplasia/Hypoplasia of the mandible Epiphyseal dysplasia Akinesia Pseudoarthrosis Absent primary metaphyseal spongiosa Abnormal enchondral ossification Abnormality of the clavicle Renal cyst Retinal dystrophy Pulmonary hypoplasia Cleft upper lip Astigmatism Hypermetropia Pectus carinatum Micropenis Abnormal heart morphology Edema Ambiguous genitalia Ventricular septal defect Delayed speech and language development Craniofacial dysostosis Lethal skeletal dysplasia Radioulnar synostosis Short long bone Polymicrogyria Respiratory distress Dumbbell-shaped metaphyses Halberd-shaped pelvis Postaxial hand polydactyly Long coccyx Anisospondyly Short diaphyses Flared femoral metaphysis Horizontal ribs Hyperplasia of the femoral trochanters Lateral clavicle hook Abnormality of the larynx Dilation of lateral ventricles Short tibia Microglossia Hypoplastic cervical vertebrae Median cleft lip Cerebellar vermis hypoplasia Preaxial hand polydactyly Tricuspid regurgitation Hepatic fibrosis Flared humeral metaphysis Snail-like ilia Hydrops fetalis Relatively short spine Abnormal metaphyseal vascular invasion Abnormality of the genital system Pachygyria Median cleft lip and palate Coarse facial features Tibial bowing Wide mouth Fractures of the long bones Micrognathia Low-set ears Intrauterine growth retardation Intellectual disability, mild Short nose Microphthalmia Cerebellar hypoplasia Hyperkeratosis Short philtrum Coronal craniosynostosis Short palm Short foot Depressed nasal ridge Hypoplastic iliac wing 11 pairs of ribs Metaphyseal cupping of metacarpals Distal shortening of limbs Abnormality of the calcaneus Metaphyseal cupping of proximal phalanges Lambdoidal craniosynostosis Turricephaly Abnormality of the sacroiliac joint Pectus excavatum Syndactyly Thin upper lip vermilion Postaxial polydactyly Preaxial polydactyly Cystic hygroma Hypoplastic ischia Vertebral wedging High palate Downslanted palpebral fissures Osteopenia High pitched voice Retrognathia Postnatal growth retardation Recurrent fractures Triangular face Oligohydramnios Blue sclerae Wormian bones Microretrognathia Reduced bone mineral density Hypoplasia of the calcaneus Joint hyperflexibility Thoracic hypoplasia Congestive heart failure Flat acetabular roof Spondyloepimetaphyseal dysplasia Small epiphyses Irregular epiphyses Carpal bone hypoplasia Long fibula Metaphyseal striations Posterior scalloping of vertebral bodies Small basal ganglia Gastroesophageal reflux Short femoral neck Severe global developmental delay Brain atrophy Otitis media Generalized-onset seizure High myopia Lumbar hyperlordosis Pulmonary arterial hypertension Exotropia Sleep apnea Irregular vertebral endplates Spondyloepiphyseal dysplasia Limitation of joint mobility Cerebral atrophy Encephalocele Holoprosencephaly Short thorax Occipital encephalocele Ataxia Nystagmus Strabismus Abnormal facial shape Short neck Joint laxity Infantile muscular hypotonia Abnormality of the pinna Synophrys Bulbous nose Wide nose Hirsutism Thick vermilion border Abnormality of the skin Low posterior hairline Thick lower lip vermilion Low anterior hairline Disproportionate shortening of the tibia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Dry skin, related diseases and genetic alterations Intellectual disability, severe and Sleep disturbance, related diseases and genetic alterations Lymphoma and Retrognathia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more