Cleft palate, and Ascites

Diseases related with Cleft palate and Ascites

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


Top matches:

Low match LYMPHEDEMA, HEREDITARY, IA; LMPH1A


Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Hereditary Primary LymphedemaPrimary lymphedema is genetically heterogeneous: see also LMPH1B (OMIM ), which maps to chromosome 6q16.2-q22.1; LMPH1C (OMIM ), caused by mutation in the GJC2 gene (OMIM ) on chromosome 1q42; and LMPH1D (OMIM ), caused by mutation in the VEGFC gene (OMIM ) on chromosome 4q34. Hereditary lymphedema III (LMPH3 ) is caused by mutaiton in the PIEZO1 gene (OMIM ) on chromosome 16q24.Also see hereditary lymphedema type II (OMIM ), also known as Meige lymphedema.Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (OMIM ), which is caused by mutation in the FOXC2 gene (OMIM ).

LYMPHEDEMA, HEREDITARY, IA; LMPH1A Is also known as primary congenital lymphedema|pcl|nonne-milroy lymphedema|lymphedema, early-onset|milroy disease

Related symptoms:

  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, IA; LMPH1A

Low match SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Low match COMPLEX LETHAL OSTEOCHONDRODYSPLASIA


Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

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Other less relevant matches:

Low match OSTEOCRANIOSTENOSIS


Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

Low match SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE


Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Low match PERLMAN SYNDROME


Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Low match COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS


Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Low match ADAMS-OLIVER SYNDROME


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

Low match CUTIS MARMORATA TELANGIECTATICA CONGENITA


Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Top 5 symptoms//phenotypes associated to Cleft palate and Ascites

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Edema Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Epicanthus Muscular hypotonia Pulmonary hypoplasia Polyhydramnios Depressed nasal bridge Short nose Low-set ears Intellectual disability Hypertelorism Micrognathia Brachydactyly Microcephaly Syndactyly Hypospadias Polydactyly High forehead Deeply set eye Limb undergrowth Patent ductus arteriosus Frontal bossing Wide nasal bridge Microphthalmia Anteverted nares Prominent forehead Osteopenia Abnormal facial shape Hydrocephalus Ventriculomegaly Short stature Failure to thrive Holoprosencephaly Flat face Disproportionate short-limb short stature Polymicrogyria Ambiguous genitalia Small for gestational age Macrocephaly Posteriorly rotated ears Neoplasm Scoliosis Short ribs Hypothyroidism Strabismus Nephroblastoma Abnormality of the upper limb Cleft lip Cognitive impairment Abnormal heart morphology Hydrops fetalis Abnormality of cardiovascular system morphology Nail dysplasia Dolichocephaly Oral cleft Pulmonic stenosis

Rare Symptoms - Less than 30% cases


Redundant skin Atrial septal defect Abnormality of the skeletal system Hepatomegaly Downslanted palpebral fissures Hearing impairment Hypoplastic left heart Abnormality of the lower limb Severe postnatal growth retardation Growth abnormality Clinodactyly Depressed nasal ridge Cataract Delayed skeletal maturation Growth hormone deficiency Cutis marmorata telangiectatica congenita Craniosynostosis Abnormality of the eye Pneumonia Abdominal distention Hernia Coarctation of aorta Aplasia/Hypoplasia of the skin Fetal ascites Median cleft lip and palate Finger syndactyly Abnormality of the kidney Leukemia Toe syndactyly Telangiectasia Bilateral single transverse palmar creases Dandy-Walker malformation Cutis marmorata Cortical dysplasia Cleft upper lip Talipes equinovarus Talipes Abnormality of the pinna Smooth philtrum Inguinal hernia Macroglossia Overgrowth Multiple cafe-au-lait spots Large for gestational age Capillary hemangioma Multicystic kidney dysplasia Agenesis of corpus callosum Respiratory distress Arteriovenous malformation Abnormality of digit Varicose veins Tetralogy of Fallot Bowing of the long bones Short long bone Hemangioma Pleural effusion Hydronephrosis Micropenis Respiratory insufficiency Cerebellar hypoplasia Short neck Short distal phalanx of finger Thoracic hypoplasia Thoracic dysplasia Hypoplastic scapulae Recurrent fractures Polycystic kidney dysplasia Cardiomegaly Narrow chest Ptosis Decreased skull ossification Renal hypoplasia Renal insufficiency Arrhythmia Single umbilical artery Micromelia Sparse hair Postaxial polydactyly Flared metaphysis Renal cyst Skin erosion Aortic regurgitation Osteolysis Microretrognathia Arterial stenosis Right aortic arch Finger clinodactyly Rhabdomyosarcoma Asymmetric growth Cafe-au-lait spot Subvalvular aortic stenosis Sleep apnea Cavum septum pellucidum Dilation of lateral ventricles Duodenal atresia Abnormality of the skull Atrial flutter Acute lymphoblastic leukemia Abnormal lung lobation Abnormality of immune system physiology Intestinal polyposis Aplasia/Hypoplasia of the corpus callosum Short palpebral fissure Atrioventricular canal defect Colon cancer Aplasia/Hypoplasia of the cerebellum Myelodysplasia Abnormality of vision Rhizomelia Muscular dystrophy Perisylvian polymicrogyria Displacement of the external urethral meatus Decreased cervical spine mobility Progressive macrocephaly Moon facies Abnormal prolactin level Pituitary dwarfism Aplasia/Hypoplasia of the breasts Septo-optic dysplasia Ectopic posterior pituitary Leukocoria Decreased circulating ACTH level Anterior pituitary hypoplasia Vascular ring Absence of secondary sex characteristics Pituitary hypothyroidism Concave nasal ridge Short attention span Aspiration pneumonia Abnormality of secondary sexual hair Osteoporosis of vertebrae Sloping forehead Low-set, posteriorly rotated ears Triangular face Wide nose Bulbous nose Long face Abnormality of skin pigmentation Corneal opacity Blepharophimosis Apnea Glaucoma Anterior pituitary agenesis Clinodactyly of the 5th finger Subcutaneous hemorrhage Intellectual disability, mild Short lower limbs Capillary malformation Facial hemangioma Hemimegalencephaly Ectopic anterior pituitary gland Stomach cancer Aplasia cutis congenita on trunk or limbs Hemihypertrophy Hypoplastic fingernail Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Pulmonary artery atresia Hypopituitarism Purpura Calvarial skull defect Double outlet right ventricle Pulmonary artery stenosis Central hypotonia Oligodactyly Shock Cutaneous syndactyly Aplasia cutis congenita Aplastic/hypoplastic toenail Postaxial hand polydactyly Ischemic stroke Acrania Joint laxity Postnatal growth retardation Stroke Broad forehead Joint hypermobility Aplasia cutis congenita over posterior parietal area Thick vermilion border Retinal detachment Imperforate hymen Absent hand Periventricular cysts Nevus Vesicoureteral reflux Abnormality of the skin Absent toe Abnormal pulmonary valve morphology Venous malformation Absent fingernail Cutis laxa Arnold-Chiari malformation Abnormal aortic morphology Thrombocytopenia Premature birth Cirrhosis Prominent nasal bridge Abnormal cardiac septum morphology EEG abnormality Meningioma Alopecia Dilatation Esotropia Hypertonia Hypoplasia of the corpus callosum Abnormality of the nervous system Vaginal neoplasm Premature chromatid separation Epidermoid cyst Large earlobe Increased nuchal translucency Gastrointestinal hemorrhage Pulmonary arterial hypertension Reduced bone mineral density Severe failure to thrive Telangiectasia of the skin Cutaneous finger syndactyly Syringomyelia Supernumerary nipple Nevus flammeus Arnold-Chiari type I malformation Portal hypertension Abnormality of the metacarpal bones Bicuspid aortic valve Small nail Leukopenia Meningitis Aortic valve stenosis Megalencephaly Pachygyria Encephalocele Split hand Hemiparesis Hypertension Global brain atrophy Absent septum pellucidum Hypocalcemia Asplenia Radial bowing Severe intrauterine growth retardation Aniridia Thin ribs Slender long bone Hypokinesia Hyperostosis Cardiac arrest Cloverleaf skull Progressive microcephaly Decreased fetal movement Oligohydramnios Short philtrum Coarse facial features Skeletal dysplasia Severe short stature Motor delay Short hallux Lethal skeletal dysplasia Fractured radius Omphalocele Milia Short thorax Bowing of the legs Metaphyseal irregularity Anophthalmia Preaxial polydactyly Patent foramen ovale Short toe Wide intermamillary distance Ankyloglossia Intestinal malrotation Single transverse palmar crease Short foot Short palm Splenomegaly Hypoplastic spleen Overtubulated long bones Thin clavicles Aplasia/hypoplasia of the extremities Decreased fibular diameter Multiple rib fractures Broad palm Distichiasis Microdontia Hepatic failure High palate Hyperkeratosis over edematous areas Hypoplasia of lymphatic vessels Predominantly lower limb lymphedema Chylous ascites Abnormality of the amniotic fluid Hypoproteinemia Aplasia/Hypoplasia of the eyebrow Nonimmune hydrops fetalis Hydrocele testis Edema of the lower limbs Cellulitis Conjunctivitis Abnormality of the nail Lymphedema Paresthesia Photophobia Fine hair Mesomelia Beaded ribs Hypertrophic cardiomyopathy Large fleshy ears Multiple prenatal fractures Unilateral cleft lip Short femur Adducted thumb Wormian bones Webbed neck Platyspondyly Telecanthus Agenesis of permanent teeth Brachycephaly Cardiomyopathy Flexion contracture Short uvula Fused teeth Short lingual frenulum Bilateral postaxial polydactyly Flat acetabular roof Cystic hygroma Short finger Natal tooth Prolonged neonatal jaundice Abnormality of upper lip Ileal atresia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Abnormality of pancreas morphology Nephroblastomatosis Thymus hyperplasia Lumbar scoliosis Prominent xiphoid process Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Femoral hernia Interrupted aortic arch Visceromegaly Thickened helices Hypoxemia Distal ileal atresia Sensorineural hearing impairment Thick upper lip vermilion Hypotension Delayed cranial suture closure Adrenal insufficiency Optic nerve hypoplasia Hypogonadotrophic hypogonadism Hoarse voice Aspiration Amenorrhea Decreased testicular size Infertility Fatigue Delayed puberty Severe global developmental delay Hypoglycemia Jaundice Hypogonadism Constipation Midface retrusion Malar flattening Intellectual disability, severe Volvulus Renal neoplasm Hypoplastic nipples Horizontal ribs Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Periportal fibrosis Hamartoma of tongue Lobulated tongue Accessory spleen Pancreatic cysts Cerebral atrophy Cystic renal dysplasia Atelectasis Bifid tongue Preaxial foot polydactyly Microglossia Broad foot Median cleft lip Protuberant abdomen Anencephaly Cryptorchidism Retrognathia Polysplenia Open mouth Enlarged kidney Hamartoma Neurodevelopmental delay Hyperinsulinemia Tented upper lip vermilion Hepatic fibrosis Tall stature Renal dysplasia Status epilepticus Hepatosplenomegaly Lumbar hyperlordosis Congenital diaphragmatic hernia Hypoplasia of penis Abnormality of the cardiovascular system Specific learning disability Round face High, narrow palate Hyperlordosis Muscular hypotonia of the trunk Blue nevus



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