Hydrocephalus, and Pectus excavatum

Diseases related with Hydrocephalus and Pectus excavatum

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

Top matches:

Related symptoms:

  • Short stature
  • Hydrocephalus
  • Pectus excavatum
  • Talipes
  • Situs inversus totalis


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

Other less relevant matches:

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

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

Medium match MONOSOMY 9Q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

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

MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Top 5 symptoms//phenotypes associated to Hydrocephalus and Pectus excavatum

Symptoms // Phenotype % cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Hypertelorism Dilatation Global developmental delay Macrocephaly Scoliosis Craniosynostosis Abnormality of the skeletal system Pes planus Polydactyly Retrognathia Proptosis Malar flattening Kyphosis Growth delay Dolichocephaly Frontal bossing Talipes equinovarus Motor delay Agenesis of corpus callosum Brachydactyly High palate Intrauterine growth retardation Myopia Seizures Joint hypermobility Abnormal facial shape

Rare Symptoms - Less than 30% cases

Apnea Dilated cardiomyopathy Hyperlordosis Muscular dystrophy Postaxial polydactyly Syndactyly Abnormal cerebellum morphology Hip dislocation Mitral valve prolapse Arachnodactyly Clinodactyly of the 5th finger Scapular winging Dural ectasia Arthrogryposis multiplex congenita Skeletal muscle hypertrophy Calf muscle hypertrophy Generalized amyotrophy Spinal rigidity Anteverted nares Visual impairment Congenital hip dislocation Pes cavus Hypoglycosylation of alpha-dystroglycan Muscle weakness Elevated serum creatine phosphokinase Aortic aneurysm Tall stature Midface retrusion Umbilical hernia Joint hyperflexibility Ectopia lentis Delayed eruption of teeth Depressed nasal bridge Recurrent fractures Arnold-Chiari malformation Respiratory distress Cleft palate Short thorax Micrognathia Spina bifida occulta Hemivertebrae Postnatal growth retardation Plagiocephaly Triangular face Joint laxity Skeletal muscle atrophy Flexion contracture Bifid uvula Strabismus Cataract Broad forehead Oligohydramnios Atrial septal defect Short neck Long philtrum Blue sclerae Microphthalmia Wormian bones Thin ribs Short nose Horizontal ribs Hernia Pain Increased vertebral height Hypoplastic ischia Patent ductus arteriosus Enlarged thorax Inguinal hernia Abnormality of the cerebral vasculature Hypoplastic pubic bone Everted lower lip vermilion Hypoplastic pelvis Severe short stature Confusion Micromelia Small for gestational age Protruding ear Skeletal dysplasia Mandibular prognathia Delayed skeletal maturation Thick eyebrow Clinodactyly Hypospadias Cardiac fibroma Odontogenic keratocysts of the jaw Plantar pits Thickened ears Ovarian fibroma Bulbous nose Thick vermilion border Short 5th finger Neonatal respiratory distress Abnormality of the elbow Disproportionate short stature Slender long bone Decreased fertility Mild short stature Hypoplasia of the ulna Rocker bottom foot Short long bone Decreased testicular size Joint dislocation Abnormality of dental enamel Pointed chin Short ribs Narrow face Abnormality of the metaphysis Thick lower lip vermilion Osteoporosis Protrusio acetabuli Camptodactyly Pachygyria Aplasia/Hypoplasia of the corpus callosum Lissencephaly Holoprosencephaly Knee flexion contracture EMG abnormality Bradycardia Preauricular skin tag Encephalocele Hypoplasia of the brainstem Cerebellar vermis hypoplasia Brain atrophy Generalized muscle weakness Retinal detachment Polymicrogyria Pulmonic stenosis Congenital cataract Hypermetropia Congenital muscular dystrophy Mask-like facies Camptodactyly of finger Buphthalmos Cephalocele Thoracic hemivertebrae Agyria Cerebellar cyst Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Myocardial fibrosis Increased variability in muscle fiber diameter Retinal dysplasia Ankle contracture Anencephaly Atrophy/Degeneration affecting the brainstem Weak cry Transposition of the great arteries Cortical dysplasia Multiple joint contractures Abnormality of the cerebral white matter Abnormality of the pinna Abnormal cardiac septum morphology Striae distensae Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency Spondylolisthesis High anterior hairline Aortic dissection Dilatation of the cerebral artery Disproportionate tall stature Palmar pits Myopathic facies Bicuspid aortic valve Narrow palate Joint contracture of the hand Exotropia Dental crowding Chest pain Pectus carinatum Arterial tortuosity Mild myopia Neonatal hypotonia Respiratory insufficiency Rigidity EEG abnormality Glaucoma Brachycephaly Cerebellar hypoplasia Areflexia Myopathy Intellectual disability, severe Gait disturbance Ascending aortic dissection Optic atrophy Delayed speech and language development Generalized arterial tortuosity Bicuspid pulmonary valve Spontaneous pneumothorax Descending thoracic aorta aneurysm Pulmonary artery aneurysm Absent distal phalanges Calcification of falx cerebri Abnormality of finger Metopic synostosis Inability to walk Gowers sign Motor deterioration Wolff-Parkinson-White syndrome Neck flexor weakness Abnormal glycosylation Fatty replacement of skeletal muscle Moderately reduced ejection fraction Muscle fiber hypertrophy Reduced muscle fiber merosin Microcephaly Hypoplasia of the corpus callosum Absent speech Facial asymmetry Poor speech Delayed myelination Infantile muscular hypotonia Deviation of the 5th finger Bruising susceptibility Prominent nasal bridge Gastroesophageal reflux Prominent forehead Hypertension Failure to thrive Abnormality of the orbital region Open mouth Abnormal hair whorl Facial hypotonia Prominent metopic ridge Broad hallux Tented upper lip vermilion Delayed gross motor development Limb-girdle muscular dystrophy Reduced tendon reflexes Premature birth 11 pairs of ribs Unilateral vertebral artery hypoplasia Abnormality of the odontoid process Block vertebrae Restrictive deficit on pulmonary function testing Rib fusion Neurogenic bladder Myelomeningocele Platyspondyly Missing ribs Restrictive ventilatory defect Dextrocardia Spina bifida Situs inversus totalis Talipes Osteopenia Microretrognathia Frequent falls Hyporeflexia Lumbar hyperlordosis Waddling gait Tachycardia Falls Myalgia Proximal muscle weakness Fractures of the long bones Reduced bone mineral density Narrow iliac wings Lambdoidal craniosynostosis Decreased skull ossification Coronal craniosynostosis Turricephaly High pitched voice High, narrow palate High myopia Rhabdomyosarcoma Accessory oral frenulum Mesoaxial polydactyly Tongue nodules Hypoplasia of the epiglottis Common atrium Lobulated tongue Bilateral postaxial polydactyly Porencephalic cyst Agenesis of central incisor Complete atrioventricular canal defect Abnormality of the larynx Bifid nasal tip Preaxial foot polydactyly Bifid tongue Postaxial foot polydactyly Talon cusp Partial duplication of the phalanges of the hallux Median cleft lip Accelerated skeletal maturation Medulloblastoma Abnormality of the vertebral column Basal cell carcinoma Large for gestational age Nephroblastoma Trigonocephaly Abnormality of the ribs Low-set ears Oral cleft Retinopathy Narrow mouth Hyperactivity Epicanthus Feeding difficulties Arachnoid cyst Natal tooth Increased body weight Narrow nose Prominent scalp veins Narrow palm Pes valgus Hyperextensibility of the finger joints Entropion Progeroid facial appearance Severe intrauterine growth retardation Wide nasal bridge Scaphocephaly Aortic root aneurysm Reduced subcutaneous adipose tissue Lipodystrophy Relative macrocephaly Cutis laxa Hearing impairment Cerebellar atrophy Abnormality of digit Postaxial hand polydactyly Atrioventricular canal defect Flared metaphysis Preaxial hand polydactyly Metaphyseal irregularity Preaxial polydactyly Tachypnea Limb undergrowth Abnormal heart morphology Broad nasal tip Hypoplasia of the maxilla Short palm Cleft lip Telecanthus Conductive hearing impairment Hypoplasia of the pyramidal tract


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