Cleft palate, and Nausea and vomiting

Diseases related with Cleft palate and Nausea and vomiting

In the following list you will find some of the most common rare diseases related to Cleft palate and Nausea and vomiting that can help you solving undiagnosed cases.


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Low match DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3


DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

Low match WAARDENBURG SYNDROME, TYPE 3; WS3


Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Low match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

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Other less relevant matches:

Low match VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Low match TORIELLO-CAREY SYNDROME


Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Low match DIAMOND-BLACKFAN ANEMIA 1; DBA1


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Low match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Low match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Low match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Top 5 symptoms//phenotypes associated to Cleft palate and Nausea and vomiting

Symptoms // Phenotype % cases
Vomiting Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Nausea and vomiting. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Growth delay Abdominal distention Cryptorchidism Hearing impairment Failure to thrive Generalized hypotonia Atrial septal defect Short nose Short neck Depressed nasal bridge Clinodactyly Flexion contracture Brachydactyly Narrow chest Abnormality of the skeletal system Low-set ears Diarrhea Syndactyly Abnormal facial shape Polyhydramnios Anemia Constipation Abnormal cardiac septum morphology Weight loss Glaucoma Malar flattening Osteosarcoma Mandibular prognathia Hypospadias Abnormal heart morphology Abnormality of cardiovascular system morphology Respiratory distress Pain Ventricular septal defect Strabismus High palate Hypertension Global developmental delay Anteverted nares Pneumonia Telecanthus Sensorineural hearing impairment Talipes equinovarus Absent thumb Short thumb Intestinal malrotation Frontal bossing Nausea Wide nasal bridge

Rare Symptoms - Less than 30% cases


Acute myeloid leukemia Dysphagia Kyphoscoliosis Abdominal pain Drooling 11 pairs of ribs Skeletal dysplasia Dilatation Sarcoma Partial duplication of thumb phalanx Midface retrusion Seizures Spasticity Triphalangeal thumb Feeding difficulties Hyperreflexia Nail dystrophy Myelodysplasia Anemia of inadequate production Short palpebral fissure Vesicoureteral reflux Hypogonadism Thrombocytopenia Abnormality of the genital system Leukemia Short palm Bilateral cryptorchidism Retrognathia Respiratory failure Hypoplastic left heart Patent ductus arteriosus Anteriorly placed anus Fatigue Short humerus Recurrent urinary tract infections Downslanted palpebral fissures Intrauterine growth retardation Premature birth Delayed speech and language development Coarctation of aorta Ptosis Hypoplasia of the radius Absent radius Intestinal pseudo-obstruction Horseshoe kidney Postural instability Gastroesophageal reflux Skin rash Hypopigmentation of the skin Gastrointestinal hemorrhage Rectovaginal fistula Intellectual disability, severe Bronchomalacia Premature graying of hair Cataract Mild short stature Spastic paraplegia Anorexia Aganglionic megacolon Blepharophimosis Cleft lip Thick vermilion border Paraplegia Proptosis Macrocephaly Prominent nasal bridge Hydrocephalus Neoplasm Abnormality of the liver Abnormality of skin pigmentation Anal atresia Lethal skeletal dysplasia Basal cell carcinoma Agenesis of permanent teeth Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Coronal cleft vertebrae Laryngeal stenosis Fused cervical vertebrae Short femur Long clavicles Skin vesicle Fibular aplasia Aplasia/Hypoplasia of the ulna Epistaxis Squamous cell carcinoma Aortic valve stenosis Dermal atrophy Menorrhagia Hypoplasia of the ulna Bowing of the legs Atrioventricular block Eosinophilia Aortic regurgitation Finger clinodactyly Bradycardia Pectus excavatum Abnormal vertebral morphology Pyloric stenosis Atrial fibrillation Mitral valve prolapse Abnormality of the cardiovascular system Asthma Bruising susceptibility Hepatosplenomegaly Polydactyly Radial bowing Atonic seizures Increased number of teeth Poor speech Rhizomelia Encephalocele Lumbar hyperlordosis Iris atrophy Limb undergrowth Otitis media Short metacarpal Generalized myoclonic seizures Inability to walk Talipes Generalized tonic-clonic seizures Aspiration Autistic behavior Duodenal stenosis Respiratory tract infection Annular pancreas Juvenile cataract Hyperlordosis Bilateral radial aplasia Anxiety Zonular cataract Deeply set eye Sinusitis Meningitis Bell-shaped thorax Oral-pharyngeal dysphagia Loss of speech Aplasia/Hypoplasia of the thumb Proportionate short stature Progressive spasticity Poikiloderma Tibial bowing Spondyloepiphyseal dysplasia Concave nasal ridge Flat occiput Clubbing Patellar aplasia Muscle stiffness Elbow dislocation Acantholysis Short metatarsal Hyperkinesis Disproportionate short-limb short stature Skin erosion Aplasia/Hypoplasia of the patella Abnormality of the outer ear Joint dislocation Absence seizures Recurrent pneumonia Bundle branch block Atrioventricular canal defect Right bundle branch block Dolichocephaly Open mouth Thick lower lip vermilion Renal hypoplasia Narrow forehead Decreased testicular size Macroglossia Tapered finger Thick eyebrow Genu valgum Abnormality of the foot Triangular nasal tip Narrow face Microtia Wide mouth Abnormality of the kidney Microphthalmia Alopecia Thin upper lip vermilion Osteoporosis Hyperkeratosis Erythema Sparse hair Exotropia Increased body weight Coarse facial features Asplenia Widely-spaced maxillary central incisors Talipes calcaneovalgus Hypoplastic philtrum Alternating exotropia Bilateral renal hypoplasia U-Shaped upper lip vermilion Paroxysmal bursts of laughter Short upper lip Lower limb hypertonia Overjet Facial hypotonia Intellectual disability, progressive Protruding tongue Abnormality of blood and blood-forming tissues Slender finger External genital hypoplasia Radial deviation of finger Encephalitis Tented upper lip vermilion Scrotal hypoplasia Infantile muscular hypotonia Widely spaced teeth Pes planus Small for gestational age Neoplasm of the skin Thoracic scoliosis Delayed eruption of teeth Anomalous pulmonary venous return Complete atrioventricular canal defect Ecchymosis Allergy Secundum atrial septal defect Down-sloping shoulders Truncus arteriosus Heart block Short clavicles Microcornea Total anomalous pulmonary venous return Hypodontia Oligodactyly Growth hormone deficiency Microdontia Cutaneous photosensitivity Telangiectasia Equinovarus deformity Limited elbow extension Petechiae Congenital hip dislocation Phocomelia Hematemesis Micropenis Obesity Macrotia Hyperactivity Corneal opacity Hip dislocation Flat face Upslanted palpebral fissure Posteriorly rotated ears Delayed skeletal maturation Small hand Short foot Hypertonia Small thenar eminence Optic atrophy Epicanthus Quadricuspid aortic valve Patellar subluxation Lactose intolerance Tibial torsion Aplasia of the pectoralis major muscle Mesoaxial polydactyly Short digit Aplasia of the ulna Abnormality of the carpal bones Cerebral cortical atrophy Pallor Autism Soft tissue sarcoma Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Leiomyosarcoma Ewing sarcoma Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Astrocytoma Acute monocytic leukemia Chromosome breakage Uveitis Hyphema Pineal cyst Neurofibromas Joint stiffness Portal hypertension Hypoalbuminemia External ophthalmoplegia Pancreatitis Interphalangeal joint contracture of finger Overgrowth Round face Arachnodactyly Ophthalmoplegia Broad forehead Low-set, posteriorly rotated ears Iris neovascularization Hydronephrosis Umbilical hernia Myopathy Skeletal muscle atrophy Fever Peripheral neuropathy Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Cellulitis Increased intracranial pressure Malnutrition Preauricular pit Arthrogryposis multiplex congenita Camptodactyly of finger Intractable diarrhea Secretory diarrhea Protracted diarrhea Ureteral duplication Villous atrophy Optic nerve coloboma Corneal erosion Abnormality of digit Keratitis Underdeveloped nasal alae Hyponatremia Cutis laxa Abnormal intestine morphology Choanal atresia Bifid uvula Metabolic acidosis Single transverse palmar crease Toe syndactyly Acidosis Abnormality of metabolism/homeostasis Synophrys Joint contracture of the hand Lymphoma White forelock Carcinoma Visual loss Headache Blindness Visual impairment Nystagmus Poliosis Dacryocystitis Partial albinism Narrow naris Atelectasis Scapular winging White hair Heterochromia iridis Blue irides Carpal synostosis Vitiligo Sprengel anomaly Cutaneous finger syndactyly Albinism Congenital sensorineural hearing impairment Hypopigmented skin patches Intestinal obstruction Anonychia Brachycephaly Webbed neck Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Abnormality of the hand Abnormal dermatoglyphics Bone marrow hypocellularity Hydrops fetalis Depressed nasal ridge Pancytopenia Neutropenia Macrocytic anemia Cleft upper lip Lethargy Congestive heart failure Edema Laryngeal hypoplasia Anotia Extramedullary hematopoiesis Endocardial fibroelastosis Entropion Myeloid leukemia Thrombocytosis Abnormality of the larynx Elevated red cell adenosine deaminase activity Severe short stature Recurrent respiratory infections Depressivity Recurrent infections Gait disturbance Scoliosis Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Hypoplastic anemia Hypoplastic ilia Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Reticulocytopenia Increased mean corpuscular volume Aplastic anemia Redundant neck skin Cleft soft palate Hydroureter Microcolon Hypoplasia of the corpus callosum Muscular hypotonia Megaduodenum Hypoperistalsis Gastrointestinal obstruction Neuroma Barrett esophagus Urethral obstruction Megacystis Prune belly Pollakisuria Hernia Urinary retention Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Volvulus Achalasia Chronic constipation Episodic abdominal pain Hyperparathyroidism Disproportionate tall stature Cardiomyopathy Cerebellar hypoplasia Tracheal stenosis Large fontanelles Pierre-Robin sequence Double outlet right ventricle Tracheomalacia Neonatal respiratory distress Proximal placement of thumb Abnormality of the genitourinary system Microretrognathia Sparse eyelashes Narrow palpebral fissure Wide anterior fontanel Pachygyria Agenesis of corpus callosum Cerebellar vermis hypoplasia Small nail Oligohydramnios Full cheeks Downturned corners of mouth Hirsutism Thin vermilion border Pulmonic stenosis Postnatal growth retardation Abnormality of the pinna Forearm reduction defects



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