Carcinoma, and Craniosynostosis

Diseases related with Carcinoma and Craniosynostosis

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

Top matches:

Medium match CURRY-JONES SYNDROME

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Medium match PROTEUS SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Other less relevant matches:

Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.

HEREDITARY DIFFUSE GASTRIC CANCER Is also known as hereditary diffuse cancer of stomach|hereditary diffuse gastric adenocarcinoma|familial diffuse cancer of stomach|familial diffuse gastric cancer|gastric cancer, familial diffuse|fdgc|hdgc|gastric cancer, hereditary diffuse

Related symptoms:

  • Neoplasm
  • Cleft palate
  • Carcinoma
  • Cleft lip
  • Cleft upper lip


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY DIFFUSE GASTRIC CANCER

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Medium match KINDLER SYNDROME

Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.

KINDLER SYNDROME Is also known as poikiloderma, hereditary acrokeratotic|poikiloderma of kindler|poikiloderma, congenital, with bullae, weary type|bullous acrokeratotic poikiloderma of kindler and weary|ks

Related symptoms:

  • Anemia
  • Flexion contracture
  • Dysphagia
  • Syndactyly
  • Hyperkeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about KINDLER SYNDROME

Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Top 5 symptoms//phenotypes associated to Carcinoma and Craniosynostosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Carcinoma and Craniosynostosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pain Abnormality of skin pigmentation Abnormal facial shape Hypertelorism Overgrowth Delayed skeletal maturation Conductive hearing impairment Hearing impairment Abnormal vertebral morphology Hypertension Flexion contracture Frontal bossing Global developmental delay Lipodystrophy Macrocephaly Micrognathia Hypopigmentation of the skin Hyperkeratosis Macrotia Abdominal distention Syndactyly Carious teeth Finger syndactyly Kyphosis Proptosis Prominent forehead

Rare Symptoms - Less than 30% cases

Pruritus Lymphedema Dry skin Growth hormone deficiency Hypercholesterolemia Hepatic failure Delayed puberty Macroglossia Abnormal form of the vertebral bodies Hypodontia Cleft palate Hypertriglyceridemia Generalized hypotonia Hypothyroidism Umbilical hernia Goiter Round face Vesicoureteral reflux Triangular face Abnormality of the ribs Osteoporosis Thymus hyperplasia Scoliosis Abnormality of dental enamel Growth abnormality Dermal atrophy Nevus Renal cyst Hamartoma Hip dislocation Joint stiffness Intellectual disability, moderate Kyphoscoliosis Abdominal pain Constipation Poikiloderma Alopecia of scalp Squamous cell carcinoma Heart murmur Telangiectasia Cutaneous photosensitivity Eczema Hemihypertrophy Abnormal blistering of the skin Sparse hair Thin bony cortex Erythema Osteopenia Hypogonadism Scarring Alopecia Abnormality of the dentition Hepatocellular carcinoma Stroke Palmoplantar hyperkeratosis Cutaneous finger syndactyly Polymicrogyria Downslanted palpebral fissures Intrauterine growth retardation Myopia Polydactyly Hepatomegaly Depressed nasal bridge Short nose Cardiomyopathy Facial asymmetry Cryptorchidism Strabismus Abnormality of the skeletal system Failure to thrive Microcornea Down-sloping shoulders Generalized hirsutism Cardiomegaly Premature graying of hair Skeletal muscle atrophy Decreased body weight Basal cell carcinoma Aplasia/Hypoplasia of the skin Foot polydactyly Brachycephaly Edema Midface retrusion Intellectual disability, mild Coarse facial features Clinodactyly of the 5th finger Congenital hypothyroidism Visual loss Nystagmus Clinodactyly Deeply set eye Congestive heart failure Atrial septal defect Abnormality of the kidney Ptosis Sparse scalp hair Recurrent urinary tract infections Lamellar cataract Hydronephrosis Striae distensae Severe vision loss Erythroderma Omphalocele Melanoma Atrophic scars Osteosarcoma Colitis Dandy-Walker malformation Concave nasal ridge Acantholysis Postural instability Acrokeratosis Abnormality of the hand Ichthyosis Inflammatory abnormality of the skin Attention deficit hyperactivity disorder Conjunctivitis Nail dystrophy Recurrent skin infections Wide mouth Large fontanelles Papule Ectropion Anemia Corneal opacity Joint hypermobility Inflammation of the large intestine Pulmonary hypoplasia Milia Camptodactyly of finger Postaxial polydactyly Palmoplantar keratoderma Dysphagia Aniridia Polycystic kidney dysplasia Leukemia Nonimmune hydrops fetalis Hepatoblastoma Abdominal wall defect Teratoma Diaphragmatic eventration Unilateral cryptorchidism Rhabdomyosarcoma Abnormality of the tongue Pancreatic cysts Visceromegaly Hypoplasia of the thymus Nephroblastoma Diastasis recti Renal cortical cysts Ketosis Large hands Large for gestational age Neonatal hypoglycemia Prominent occiput Abnormality of the ear Tibial bowing Nevus flammeus Enlarged kidney Broad palm Neuroblastoma Protuberant abdomen Embryonal neoplasm Prune belly Skin rash Congenital mesoblastic nephroma Nephrolithiasis Nephrocalcinosis Postnatal growth retardation Accelerated skeletal maturation Abnormality of the outer ear Hyperhidrosis Prominent metopic ridge Prominent supraorbital ridges Diarrhea Vomiting Visual impairment Feeding difficulties Pancreatoblastoma Flank pain Hypercalciuria Fibrous hamartoma Pancreatic hyperplasia Overgrowth of external genitalia Adrenocortical cytomegaly Vitreomacular adhesion Nephroblastomatosis Abdominal mass Opsoclonus Posterior helix pit Ganglioneuroma Adrenocortical carcinoma Gonadoblastoma Severe photosensitivity Skin vesicle Keratoconjunctivitis sicca Lack of skin elasticity Angina pectoris Prominent superficial veins Osteolytic defects of the phalanges of the hand Ovoid vertebral bodies Hyperphosphatemia Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Thrombocytosis Short clavicles Renal cell carcinoma Hypoplastic nipples Thin ribs Small face Premature ovarian insufficiency Hyperlipidemia Acanthosis nigricans Relative macrocephaly Nasal speech Intracranial hemorrhage Hyperinsulinemia Metaphyseal widening Scleroderma Abnormality of the thorax Multiple joint contractures High pitched voice Prolonged QT interval Exertional dyspnea Lipoatrophy Generalized osteoporosis Aplasia/Hypoplasia of the earlobes Osteolysis Bilateral coxa valga Bird-like facies Prominent scalp veins Hypoplastic facial bones Reticulated skin pigmentation Old-aged sensorineural hearing impairment Craniofacial disproportion Narrow nasal tip Parietal bossing Carotid artery stenosis Absence of pubertal development Insulin-resistant diabetes mellitus at puberty Abnormal trabecular bone morphology Regional abnormality of skin Arteriosclerosis of small cerebral arteries Mitral valve calcification Widely patent fontanelles and sutures Precocious atherosclerosis Aplastic clavicle Enlarged joints Decreased serum estradiol Prolonged prothrombin time Carcinoid tumor Arteriosclerosis Narrow nasal ridge Hip pain Intermittent claudication Absence of subcutaneous fat Thin nail Premature coronary artery atherosclerosis Decreased testosterone in males Sinus tachycardia Corneal arcus Atherosclerosis Aminoaciduria Fragile skin Esophageal stricture Telangiectases in sun-exposed and nonexposed skin Acral blistering Diffuse skin atrophy Overjet Symblepharon Polyhydramnios Spotty hyperpigmentation Phimosis Spotty hypopigmentation Urethral stricture Laryngeal stenosis Abnormality of the anus Eczematoid dermatitis Overbite Cheilitis Sensorineural hearing impairment Esophagitis Gingival bleeding Turricephaly Abnormality of the skull Atypical scarring of skin Gingivitis Periodontitis Abnormal toenail morphology Premature loss of primary teeth Corneal erosion Short 4th metacarpal Amniotic constriction ring Ridged nail Short 5th metacarpal Ankyloglossia Neoplasm of the urethra Malar flattening Coxa valga Hypohidrosis Myocardial infarction Osteoarthritis Thin skin Broad-based gait Left ventricular hypertrophy Dental crowding Insulin resistance Cyanosis Sparse and thin eyebrow Aortic valve stenosis Aspiration Increased bone mineral density Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Abnormality of the cardiovascular system Convex nasal ridge Dementia Hypotrichosis Narrow mouth Dyspnea Hypertrophic cardiomyopathy Microtia Dilated cardiomyopathy Hypermetropia Narrow chest Nail dysplasia Infertility Thin vermilion border Hepatic steatosis Delayed eruption of teeth Chest pain Limitation of joint mobility Hypoglycemia Breast carcinoma Respiratory failure Posterior embryotoxon Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Coronal craniosynostosis Pulmonary artery stenosis Abnormality of the vasculature Dilatation of the cerebral artery Exocrine pancreatic insufficiency Abnormality of the ureter Butterfly vertebrae Renal tubular acidosis Keratoconus Telangiectasia of the skin Prolonged neonatal jaundice Long nose Chorioretinal atrophy Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Glomerulosclerosis Portal hypertension Renal hypoplasia/aplasia Corneal dystrophy Arterial stenosis Abnormal anterior chamber morphology Finger clinodactyly Fever Sudden cardiac death Long face Confusion Dolichocephaly Skeletal dysplasia Glaucoma Abnormality of cardiovascular system morphology Recurrent infections Headache Immunodeficiency Splenomegaly Anteverted nares Optic atrophy Low-set ears Biliary atresia Seizures Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Spina bifida occulta Multicystic kidney dysplasia Decreased antibody level in blood Hypopigmented skin patches Abnormality of thumb phalanx Duplication of thumb phalanx Hemimegalencephaly Cutaneous syndactyly of toes Anterior plagiocephaly Medulloblastoma Optic nerve coloboma Chronic constipation Arnold-Chiari type I malformation Anal stenosis Preaxial hand polydactyly Preaxial polydactyly Bilateral ptosis Narrow palpebral fissure Renal insufficiency Horizontal nystagmus Broad thumb Abnormality of the skin Intestinal malrotation Iris coloboma Hirsutism Toe syndactyly Coloboma Blepharophimosis Agenesis of corpus callosum Microphthalmia Ventriculomegaly Microcephaly Ventricular septal defect Dilatation Hemivertebrae Flat face Pointed chin Exotropia Renal dysplasia Cholestasis Renal hypoplasia Nephrotic syndrome Coarctation of aorta Tetralogy of Fallot Pigmentary retinopathy Specific learning disability Gastrointestinal hemorrhage Prominent nose Short distal phalanx of finger Cirrhosis Areflexia Stage 5 chronic kidney disease Anal atresia Malabsorption Pulmonic stenosis Broad forehead Short philtrum Retinopathy Abnormality of the liver Protruding ear Elevated hepatic transaminase Hepatosplenomegaly Jaundice Acidosis Upslanted palpebral fissure Gliosis High myopia Hyperactivity Neoplasm of the thymus Muscular hypotonia Acrania Helicobacter pylori infection Chronic atrophic gastritis Stomach cancer Oral cleft Cleft upper lip Cleft lip Mandibular hyperostosis Hypertrophy of skin of soles Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Abnormal subcutaneous fat tissue distribution Lethargy Retinal nonattachment Bronchogenic cyst Retinal hamartoma Nevus sebaceous Facial hyperostosis Narrow internal auditory canal Sirenomelia Macrodactyly Portal vein thrombosis Calvarial hyperostosis Metatarsus valgus Epidermal nevus Lymphangioma Feeding difficulties in infancy Bradycardia Upper limb asymmetry Prominent nasal bridge Myoclonus Abnormal heart morphology Hernia Respiratory distress Respiratory insufficiency Fulminant hepatic failure Thoracic kyphoscoliosis Thoracic kyphosis Posterior subcapsular cataract Subcapsular cataract Elbow flexion contracture Single transverse palmar crease Bulbous nose Pes planus Hyperbilirubinemia Pectus excavatum Thyroid hemiagenesis Thyroid dysgenesis Large posterior fontanelle Thyroid agenesis Ectopic thyroid Hoarse cry Increased thyroid-stimulating hormone level Thyroid hypoplasia Hypothermia Spondyloepiphyseal dysplasia Myotonia Stridor Testicular neoplasm Keloids Epidermal acanthosis Melanocytic nevus Spinal canal stenosis Pulmonary embolism Generalized hyperpigmentation Ovarian neoplasm Multiple cafe-au-lait spots Multiple lipomas Neurofibromas Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass Diabetes insipidus Hyperostosis Chorioretinal coloboma Abnormal lung lobation Cachexia Reduced number of teeth Abnormality of the metacarpal bones Hemangioma Venous thrombosis Abnormality of the nail Lymphopenia Sinusitis Abnormality of retinal pigmentation Thickened skin Subcutaneous nodule Heterotopia Open mouth Irregular hyperpigmentation Neoplasm of the lung Nephrogenic diabetes insipidus Buphthalmos Epibulbar dermoid Venous malformation Neoplasm of the central nervous system Generalized hyperkeratosis Thrombophlebitis Vascular skin abnormality Asymmetry of the thorax Asymmetric growth Enlarged polycystic ovaries Thick nasal alae Visceral angiomatosis Long penis Myofibrillar myopathy Arterial thrombosis Lipoma Anisocytosis Abnormality of the neck Lower limb asymmetry Arteriovenous malformation Varicose veins Deep venous thrombosis Meningioma Macroorchidism Abnormality of the wrist Abnormality of finger Spinal cord compression Capillary hemangioma Papilledema Exostoses Tapering pointed ends of distal finger phalanges


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