Hydrocephalus, and Coarctation of aorta

Diseases related with Hydrocephalus and Coarctation of aorta

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

Top matches:

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

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

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

Other less relevant matches:

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 KABUKI SYNDROME

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

KABUKI SYNDROME Is also known as kabuki make-up syndrome|niikawa-kuroki syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about KABUKI SYNDROME

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

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

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Medium match FRYNS SYNDROME

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

FRYNS SYNDROME Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRYNS SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Coarctation of aorta

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microphthalmia

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Short stature Dandy-Walker malformation Abnormal cardiac septum morphology Hydronephrosis Cerebellar hypoplasia Failure to thrive Ventriculomegaly Hypertelorism Cleft palate High palate Agenesis of corpus callosum Ventricular septal defect Intrauterine growth retardation Low-set ears Dilatation Patent ductus arteriosus Abnormality of cardiovascular system morphology Micrognathia Atrial septal defect Short neck Pulmonary hypoplasia Pulmonic stenosis Ptosis Generalized hypotonia Strabismus Talipes equinovarus Long philtrum Premature birth Growth delay Interrupted aortic arch Hyperactivity Abnormal facial shape Muscular hypotonia Behavioral abnormality Cleft upper lip Iris coloboma Cerebral cortical atrophy Attention deficit hyperactivity disorder Delayed speech and language development Tetralogy of Fallot Abnormality of the skeletal system Postaxial polydactyly Polydactyly Cleft lip Macrotia

Rare Symptoms - Less than 30% cases

Epicanthus Sensorineural hearing impairment Hypertrophic cardiomyopathy Small nail Cataract Broad neck Wide nasal bridge Retrognathia Depressivity Clinodactyly of the 5th finger Low-set, posteriorly rotated ears Autism Autistic behavior Gastrointestinal hemorrhage Toe syndactyly Hypoglycemia Absent septum pellucidum Gastroesophageal reflux Posteriorly rotated ears Oligodactyly Flexion contracture Peripheral neuropathy Downslanted palpebral fissures Cardiomyopathy Respiratory insufficiency Edema Polyhydramnios Thin ribs Camptodactyly Blepharophimosis High, narrow palate Pterygium Rocker bottom foot Thoracic hypoplasia Cystic hygroma Joint hypermobility Joint hyperflexibility Overweight Vesicoureteral reflux Paralysis Abnormal aortic morphology Glioma Porencephalic cyst Peripheral pulmonary artery stenosis Astrocytoma Freckling Hypertonia Alopecia Blindness Hypoplasia of the corpus callosum Corneal opacity Hypotrichosis Intellectual disability, profound Pulmonary arterial hypertension Hemiparesis Abnormality of the face Aortic valve stenosis Cortical dysplasia Cafe-au-lait spot Cognitive impairment Aplasia cutis congenita Coloboma Truncus arteriosus Short distal phalanx of finger Feeding difficulties Aplasia cutis congenita of scalp Hypospadias Leukemia Sparse hair EEG abnormality Congenital diaphragmatic hernia Anteverted nares Osteopenia Abnormal heart morphology Aganglionic megacolon Precocious puberty Wide intermamillary distance Neoplasm Brachydactyly Hypertension Hypoplastic fingernail Chylothorax Hemivertebrae Foot polydactyly Anal atresia Natal tooth Growth hormone deficiency Postaxial hand polydactyly Anencephaly Sloping forehead Cystic renal dysplasia Hypotelorism Renal cyst Preauricular skin tag Intestinal malrotation Adrenal hypoplasia Renal agenesis Asplenia Webbed neck Optic nerve hypoplasia Patent foramen ovale Anophthalmia Neurodevelopmental delay Partial agenesis of the corpus callosum Median cleft lip Oral cleft Bilateral cleft lip Arnold-Chiari malformation Renal dysplasia Multicystic kidney dysplasia Talipes Bilateral cleft lip and palate Wide mouth Skin tags Clinodactyly Spina bifida Syndactyly Encephalocele Hydroureter Omphalocele Depressed nasal bridge Respiratory distress Hypomagnesemia Right bundle branch block Abnormality of the elbow Meckel diverticulum Fragile nails Aplasia/Hypoplasia of the eyebrow Hiatus hernia Abnormality of coagulation Shortening of all distal phalanges of the fingers Atopic dermatitis Arnold-Chiari type I malformation Gastroschisis Abnormally large globe Myoclonus Arrhinencephaly Bifid nose Ectopic anus Duodenal atresia Dysarthria Broad ribs Visual impairment Anemia Bicornuate uterus Pain Abnormality of the nasal bridge Broad fingertip Abnormality of the helix Ovarian cyst Aplasia/Hypoplasia of the nipples Loose anagen hair Enlarged cisterna magna Ureteral duplication Abnormal location of ears Superior pectus carinatum Abnormality of the intervertebral disk Dermal translucency Abnormality of the pulmonary artery Thickened helices Slow-growing hair Abnormality of refraction Redundant neck skin Overfolded helix Absent nipple Abnormality of the testis Hypoplastic toenails Infantile muscular hypotonia Gastroparesis Vomiting Broad clavicles Abnormal aortic arch morphology Umbilical hernia Facial hirsutism Hypoplasia of olfactory tract High forehead Hypothyroidism Prominent forehead Delayed skeletal maturation Pectus excavatum Short nose Postaxial oligodactyly Craniosynostosis Absent left hemidiaphragm Ectopic pancreatic tissue Hearing impairment Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Abnormal pulmonary valve morphology Venous malformation Postnatal growth retardation Pectus carinatum Failure to thrive in infancy Hyperpigmentation of the skin Nasal speech Prominent fingertip pads Deep philtrum Abnormality of the diaphragm Relative macrocephaly Coarse hair Increased intracranial pressure Headache Abnormal palate morphology Abnormality of the fingernails Hypocalcemia Hoarse voice Thin skin Dolichocephaly Mitral regurgitation Sparse scalp hair Thick lower lip vermilion Low posterior hairline Ventricular hypertrophy Eczema Cyanosis Bilateral choanal atresia Urethral stricture Thin vermilion border Ichthyosis Carious teeth Intellectual disability, mild Pruritus Abnormality of finger Fibular bowing Embryonal rhabdomyosarcoma Axillary freckling Opacification of the corneal stroma Narrow palpebral fissure Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Gastrointestinal stroma tumor Finger clinodactyly Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Nasolacrimal duct obstruction Rhabdomyosarcoma Microretrognathia Abnormality of the outer ear Abnormality of the genitourinary system Tented upper lip vermilion Proximal placement of thumb Absent fingernail Vestibular Schwannoma Neuroma Large for gestational age Limb undergrowth Thin upper lip vermilion Abnormality of the nervous system Areflexia Abnormality of the eye Broad forehead Severe global developmental delay Narrow chest Hernia Single transverse palmar crease Gliosis Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Joint contracture of the hand Depressed nasal ridge Choanal atresia Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Heterotopia Amblyopia Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Short thumb Optic nerve glioma Neurofibrosarcoma Bifid scrotum Paraganglioma Visual loss Lymphoma Incoordination Breast carcinoma Reduced bone mineral density Venous thrombosis Atherosclerosis Sensorimotor neuropathy Bone pain Hypsarrhythmia Mitral valve prolapse Abnormality of the cardiovascular system Overgrowth Specific learning disability Recurrent fractures Back pain Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Facial asymmetry Genu valgum Malabsorption Coarse facial features Kyphoscoliosis Weight loss Glaucoma Osteoporosis Polysplenia Retinal dysplasia Sarcoma Clitoral hypertrophy Anonychia Neoplasm of the endocrine system Hypoplasia of the uterus Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Non-midline cleft lip Hypoplastic nipples Aqueductal stenosis Brain neoplasm Myocardial fibrosis Atrophy/Degeneration affecting the brainstem Meningioma Sensory axonal neuropathy Gangrene Increased reactive oxygen species production Severe vision loss Shawl scrotum Renal cell carcinoma Esophageal atresia Osteomalacia Multiple cafe-au-lait spots Tibial bowing Neurofibromas Pulmonary fibrosis Thickened nuchal skin fold Hypophosphatemia Carcinoid tumor Ectopia pupillae Absent hand Abnormality of pelvic girdle bone morphology Overlapping fingers Excessive daytime somnolence Depressed nasal tip Fetal akinesia sequence Abnormality of abdomen morphology Fatigable weakness Slender long bone Hypokinesia Generalized amyotrophy Multiple joint contractures Akinesia Congenital contracture Short palpebral fissure Cavum septum pellucidum Decreased fetal movement Arthrogryposis multiplex congenita Small for gestational age Camptodactyly of finger Telecanthus Proptosis Narrow mouth Kyphosis Skeletal muscle atrophy Craniorachischisis Occipital meningocele Large placenta Ulnar deviation of the hand Hydranencephaly Elevated amniotic fluid alpha-fetoprotein Bulbous nose Abnormality of the dentition Nystagmus Ankyloglossia Broad hallux phalanx Transposition of the great arteries High hypermetropia Broad hallux Hand polydactyly Schizophrenia Broad thumb Sleep disturbance Short foot Intellectual disability, moderate Fractures of the long bones Joint laxity Aggressive behavior Anxiety Deeply set eye Inguinal hernia Frontal bossing Intestinal hypoplasia Absent palmar crease Small placenta Short umbilical cord Elbow ankylosis Ulnar deviation of the hand or of fingers of the hand Thyroid hypoplasia Olfactory lobe agenesis Hypoplasia of the bladder Obesity Median cleft lip and palate Agenesis of incisor Anterior pituitary agenesis Short hard palate Single naris Underdeveloped tragus Hypoplasia of the premaxilla Thoracic hemivertebrae Alobar holoprosencephaly Prominent antihelix Semilobar holoprosencephaly Single median maxillary incisor Wide cranial sutures Anterior pituitary hypoplasia Diastolic heart murmur Panhypopituitarism Large forehead Abnormal cortical gyration Heart murmur Holoprosencephaly Dental malocclusion Hypoplasia of the maxilla Microtia Short philtrum Micropenis Midface retrusion Malar flattening Asymmetric ventricles Splenomegaly Urethral obstruction Abnormality of the larynx Cerebral hypoplasia Neural tube defect Urethral atresia Meningoencephalocele Lobulated tongue Elevated alpha-fetoprotein Ambiguous genitalia, female Accessory spleen Cerebellar dysplasia Portal fibrosis Ambiguous genitalia, male Bile duct proliferation Abnormality of the uterus Oligohydramnios Breech presentation Single umbilical artery Meningocele Abnormality of the ureter Occipital encephalocele External genital hypoplasia Radial deviation of finger Preaxial polydactyly Polycystic kidney dysplasia Spontaneous abortion Hepatic fibrosis Abnormality of the genital system Bowing of the long bones Recurrent infections Conductive hearing impairment Aplastic/hypoplastic toenail Subcutaneous lipoma Abnormality of the kidney Thrombocytopenia Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Odontoma Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Hemiatrophy Tricuspid valve prolapse Finger syndactyly Epibulbar dermoid Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormal anterior chamber morphology Alopecia areata Visceral angiomatosis Bone cyst Subvalvular aortic stenosis Craniofacial hyperostosis Xanthomatosis Hemihypertrophy Echolalia Prominent nasal bridge Cirrhosis Eyelid coloboma Aplasia/Hypoplasia of the skin Periventricular leukomalacia Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Double outlet right ventricle Pulmonary artery stenosis Central hypotonia Cutaneous finger syndactyly Hypoplastic left heart Polymicrogyria Supernumerary nipple Cutis marmorata Portal hypertension Abnormality of the metacarpal bones Bicuspid aortic valve Leukopenia Meningitis Telangiectasia Pachygyria Split hand Nail dysplasia Esotropia Ascites Dysostosis multiplex Abnormal eyelid morphology Protruding ear Mask-like facies Lip pit Crossed fused renal ectopia Vertebral clefting Duplicated collecting system Butterfly vertebrae Ureteropelvic junction obstruction Abnormal localization of kidney Sparse lateral eyebrow Short 5th finger Short columella Abnormality of immune system physiology Short middle phalanx of finger Abnormality of dental morphology Spasticity Renal hypoplasia/aplasia Widely spaced teeth Abnormal dermatoglyphics Long eyelashes Abnormal form of the vertebral bodies Blue sclerae Hypoplasia of penis Microdontia Hypodontia Microcornea Highly arched eyebrow Small hand Hip dislocation Eversion of lateral third of lower eyelids Cerebral atrophy Sclerocornea Hemiplegia Capillary hemangioma Abnormality of the skull Arachnoid cyst Abnormal eyelash morphology Nevus flammeus Lipoma Hypoplasia of the iris Hamartoma Multiple lipomas Dysphasia Aphasia Lipodystrophy Mutism Skeletal dysplasia Hemangioma Sacral dimple Osteolysis Muscle stiffness Subcutaneous nodule Cerebral calcification Nevus Tetraplegia Papule Neurological speech impairment Retinopathy Scarring Rigidity Hypoplasia of the optic tract


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