Hydrocephalus, and Webbed neck

Diseases related with Hydrocephalus and Webbed neck

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


Top matches:

High match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1


Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

High match ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS


ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

High match CAMPOMELIC DYSPLASIA


Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

CAMPOMELIC DYSPLASIA Is also known as campomelic dwarfism|cmpd1|cmpd|cmd1|cmpd1/sra1

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAMPOMELIC DYSPLASIA

Mendelian

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

Learn more

Other less relevant matches:

High match MECKEL SYNDROME, TYPE 1; MKS1


Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

High match MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7


Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

High match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

High match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

High match X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE


Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

High match PETERS PLUS SYNDROME


Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS PLUS SYNDROME Is also known as peters anomaly with short-limb dwarfism|krause-kivlin syndrome|krause-van schooneveld-kivlin syndrome|peters anomaly with short limb dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PETERS PLUS SYNDROME

High match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME


Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Webbed neck

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate

Common Symptoms - More than 50% cases


Dilatation

Uncommon Symptoms - Between 30% and 50% cases


Abnormal heart morphology

Common Symptoms - More than 50% cases


Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases


Prominent forehead Clinodactyly Anteverted nares Talipes equinovarus Depressed nasal bridge Flexion contracture Downslanted palpebral fissures Seizures Abnormal facial shape Polyhydramnios Posteriorly rotated ears Craniosynostosis Patent ductus arteriosus Thin vermilion border Pulmonic stenosis Short nose Cleft upper lip Anal atresia Cleft lip Syndactyly High forehead Cryptorchidism Multicystic kidney dysplasia Hydronephrosis Severe short stature Abnormality of cardiovascular system morphology Long philtrum Abnormality of the skeletal system Failure to thrive Epicanthus Atrial septal defect Cataract Umbilical hernia Relative macrocephaly Abnormal cardiac septum morphology Cognitive impairment Ptosis Inguinal hernia Joint laxity Microcephaly Strabismus Frontal bossing Gastroesophageal reflux Wide intermamillary distance Talipes Hypothyroidism Pectus excavatum Cerebral cortical atrophy Kyphoscoliosis Skeletal dysplasia Conductive hearing impairment Brachycephaly Wide nasal bridge Flat face Wide anterior fontanel Dolichocephaly Agenesis of corpus callosum Growth delay Wide mouth Lumbar hyperlordosis Thick lower lip vermilion Pectus carinatum Intestinal malrotation Coarctation of aorta Motor delay Postnatal growth retardation Natal tooth Hypertrophic cardiomyopathy Nasal speech High palate Camptodactyly Retrognathia Feeding difficulties Attention deficit hyperactivity disorder Respiratory distress Cerebellar hypoplasia Dandy-Walker malformation Hyperactivity

Rare Symptoms - Less than 30% cases


Broad forehead Single transverse palmar crease Optic nerve hypoplasia Rhizomelia Radial deviation of finger Mitral regurgitation Low posterior hairline Open mouth Short metacarpal Microretrognathia Spina bifida occulta Arnold-Chiari malformation Optic atrophy Visual impairment Abnormally large globe Myopia Upslanted palpebral fissure Absent speech Iris coloboma Behavioral abnormality Spontaneous abortion Hypospadias Metatarsus adductus Oligohydramnios Edema Omphalocele Patent foramen ovale Arachnodactyly Spina bifida Sparse scalp hair Microtia Intellectual disability, moderate Intellectual disability, severe Clinodactyly of the 5th finger Megalencephaly Broad ribs Delayed closure of the anterior fontanelle Thoracolumbar kyphosis Thick eyebrow Genu valgum Anal stenosis Corneal opacity Deep palmar crease Partial agenesis of the corpus callosum Slow-growing hair Hyperlordosis Cystic hygroma Aganglionic megacolon Sacral dimple Dental crowding Intrauterine growth retardation Glaucoma Joint contracture of the hand Delayed skeletal maturation Narrow palate Hyperpigmentation of the skin Loose anagen hair Spasticity Cardiomyopathy Arnold-Chiari type I malformation Intellectual disability, mild Pyloric stenosis Hernia Splenomegaly Spondyloepiphyseal dysplasia Hypermetropia Hypotelorism Low-set, posteriorly rotated ears Sparse hair Thoracic hypoplasia Bilateral talipes equinovarus Bowing of the legs Pterygium Nystagmus Broad neck Abnormality of the foot Bowing of the long bones Short palpebral fissure High, narrow palate Recurrent fractures Pulmonary hypoplasia Narrow chest Tracheomalacia Hip dislocation Hypoplasia of the corpus callosum Apnea Heterotopia Proptosis Plagiocephaly Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Kyphosis Muscular hypotonia Pleural effusion Overfolded helix Cerebellar dysplasia Overlapping fingers Fibular hypoplasia Disproportionate short-limb short stature Ichthyosis Pierre-Robin sequence Abnormality of the pulmonary artery Delayed speech and language development Small face 11 pairs of ribs Brachydactyly Eczema Laryngotracheomalacia Growth hormone deficiency Macrotia Abnormal location of ears Broad hallux Abnormality of the sternum Thickened helices Downturned corners of mouth Dermal translucency Abnormality of the intervertebral disk Neurodevelopmental delay Abnormality of coagulation Anteriorly placed anus Aplasia/Hypoplasia of the eyebrow Superior pectus carinatum Thoracic scoliosis Skin tags Right bundle branch block Multiple joint contractures Prominent fingertip pads Sensorineural hearing impairment Facial wrinkling Abnormality of the nasal bridge Auricular pit Postnatal macrocephaly Microtia, first degree Frontal upsweep of hair Facial hypotonia Failure to thrive in infancy Abnormality of the nasopharynx Sagittal craniosynostosis Gastrointestinal dysmotility Broad fingertip Hypoplastic toenails High pitched voice Peripheral pulmonary artery stenosis Split hand Neonatal hypotonia Choanal atresia Fine hair Pachygyria Broad thumb Telecanthus Aggressive behavior Fragile nails Hypomagnesemia Hiatus hernia Gynecomastia Prominent nose Abnormality of the elbow Straight clavicles Anxiety Rigidity Impulsivity Triangular face Severe global developmental delay Enlarged cisterna magna Abnormality of the testis Constipation Metaphyseal striations Redundant neck skin Abnormality of refraction Gait disturbance Atopic dermatitis Unsteady gait Congenital contracture Freckling Chorioretinal coloboma Respiratory failure Asymmetry of the thorax Cerebral atrophy Narrow forehead Nephroblastoma Metaphyseal widening Increased susceptibility to fractures Mutism Holoprosencephaly Osteolysis Increased bone mineral density Aortic valve stenosis Abnormal vertebral morphology Large fontanelles Abnormality of the metaphysis High iliac wings Hyperostosis Cerebral calcification Specific learning disability Facial hyperostosis Abnormality of the skin Dental malocclusion Bifid uvula Broad nasal tip Delayed eruption of teeth Thick vermilion border Long face Ophthalmoplegia Paralysis Flat occiput Delayed cranial suture closure Headache Large forehead Sclerosis of skull base Otosclerosis Flexion contracture of toe Rough bone trabeculation Broad clavicles Alobar holoprosencephaly Fibular aplasia Large iliac wings Craniofacial osteosclerosis Laryngeal web White forelock Facial paralysis Unilateral facial palsy Aphasia Thoracic dysplasia Ectopic anus Echolalia Misalignment of teeth Osteopetrosis Ankylosis Submucous cleft hard palate Thickened calvaria Mixed hearing impairment Visual field defect Hypoplastic left heart Dysphasia Facial palsy Abnormality of the dentition Pes cavus Decreased fetal movement Blurred vision Preauricular pit Proximal placement of thumb Short metatarsal Abnormality of pelvic girdle bone morphology Renal hypoplasia/aplasia Osteopathia striata Intellectual disability, progressive Hemivertebrae Short toe Preauricular skin tag Decreased body weight Limb undergrowth Short columella Round face Brain atrophy Microcornea Short foot Short palm Micromelia Smooth philtrum Toe syndactyly Protruding ear Abnormality of the pinna Feeding difficulties in infancy Thin upper lip vermilion Hypoplasia of the uterus Stenosis of the external auditory canal Myopathy Hypoplasia of the vagina Pain Neoplasm Microtia, second degree Agenesis of maxillary lateral incisor Bilobate gallbladder Anterior chamber synechiae Intestinal fistula Square pelvis bone Facial hypertrichosis Aplasia/hypoplasia of the extremities Conical incisor Short lingual frenulum Birth length less than 3rd percentile Diastasis recti Exaggerated cupid's bow Mesomelic short stature Rieger anomaly Clitoral hypoplasia Limited elbow movement Biliary tract abnormality Ureteral duplication Peters anomaly Anterior hypopituitarism Communicating hydrocephalus Retinal coloboma Hypoplastic labia majora Deep philtrum Fever Coarse hair Anencephaly Bile duct proliferation Abnormality of the larynx Abnormality of the uterus Breech presentation Asplenia Single umbilical artery Meningocele Adrenal hypoplasia Foot polydactyly Abnormality of the ureter Occipital encephalocele Ambiguous genitalia, male External genital hypoplasia Hydroureter Preaxial polydactyly Polycystic kidney dysplasia Hepatic fibrosis Renal dysplasia Abnormality of the genital system Encephalocele Sloping forehead Postaxial hand polydactyly Cystic renal dysplasia Portal fibrosis Renal cyst Large placenta Hepatosplenomegaly Coarse facial features Dyspnea Mandibular prognathia Arrhythmia Recurrent infections Hypertonia Hepatomegaly Craniorachischisis Occipital meningocele Olfactory lobe agenesis Accessory spleen Elevated amniotic fluid alpha-fetoprotein Hypoplasia of the bladder Urethral obstruction Cerebral hypoplasia Neural tube defect Urethral atresia Meningoencephalocele Lobulated tongue Elevated alpha-fetoprotein Ambiguous genitalia, female Renal agenesis Postaxial polydactyly Muscular hypotonia of the trunk Hypoplasia of the brainstem Short long bone Short chin Depressed nasal ridge Ambiguous genitalia Blepharophimosis Respiratory insufficiency Kinked brainstem Hand clenching Pericardial effusion Overlapping toe Adducted thumb Femoral bowing Scrotal hypoplasia Lissencephaly Oculomotor apraxia Apraxia Abnormality of eye movement Arthrogryposis multiplex congenita Micropenis Small posterior fossa Redundant skin Long eyelashes Laryngomalacia Tibial bowing Polydactyly Tracheobronchomalacia Microphthalmia Shortening of all phalanges of the toes Poorly ossified cervical vertebrae Anterior tibial bowing Shortening of all phalanges of fingers Hypoplastic inferior ilia Absent sternal ossification Small abnormally formed scapulae Hypoplastic cervical vertebrae Hypoplasia of olfactory tract Abnormal external genitalia Thin ribs Abnormality of the sense of smell Neonatal short-limb short stature Narrow iliac wings Skin dimples Sex reversal Hypoplastic scapulae Hypoplastic iliac wing Male pseudohermaphroditism Shallow orbits Glossoptosis Gonadal dysgenesis Abnormality of the nervous system Respiratory tract infection Increased intracranial pressure Bicuspid aortic valve Abnormality of the abdominal wall Endocardial fibroelastosis Generalized osteoporosis Upper limb undergrowth Aortic root aneurysm Narrow nasal bridge Restrictive ventilatory defect Congenital glaucoma Radioulnar synostosis Hyperextensible skin Cutis laxa Knee dislocation Sandal gap Accelerated skeletal maturation Joint dislocation Elbow flexion contracture Meningitis Lymphedema Amblyopia Left ventricular hypertrophy Abnormal lung morphology Blue sclerae Lumbar scoliosis Talipes equinovalgus Congenital diaphragmatic hernia Carious teeth Infantile muscular hypotonia Abnormal palate morphology Abnormality of the fingernails Hypocalcemia Hoarse voice Cafe-au-lait spot Thin skin Ventricular hypertrophy Cyanosis Joint hypermobility Hypotrichosis Multiple joint dislocation Hypoglycemia Vomiting Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Cardiomegaly Mitral valve prolapse Platyspondyly Broad-based gait Hypoplasia of the odontoid process Hyperactive deep tendon reflexes Abnormal heart valve morphology Mild short stature Recurrent upper respiratory tract infections Widely spaced teeth Opacification of the corneal stroma Cardiac arrest Hydrops fetalis Gingival overgrowth Hypertrichosis Spinal cord compression Spastic tetraplegia Hip dysplasia Macroglossia Tetraplegia Ascites Neurodegeneration Hirsutism Vertigo Facial asymmetry Poor speech Thoracic kyphosis Thoracolumbar scoliosis Microdontia Anterior beaking of lumbar vertebrae Esotropia Pes planus Osteopenia Narrow mouth Osteoporosis Midface retrusion Congestive heart failure Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Decreased pulmonary function Dermatan sulfate excretion in urine Dysostosis multiplex Pseudoarthrosis Snoring Heparan sulfate excretion in urine Narrow greater sacrosciatic notches J-shaped sella turcica Thoracic kyphoscoliosis Prominent sternum Acetabular dysplasia Pulmonary insufficiency Recurrent ear infections Nonimmune hydrops fetalis Paranasal sinus hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Colon cancer, related diseases and genetic alterations Intrauterine growth retardation and Bifid uvula, related diseases and genetic alterations Dysarthria and Limb-girdle muscular dystrophy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more