Cleft palate, and Abdominal distention

Diseases related with Cleft palate and Abdominal distention

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


Top matches:

Medium match MECKEL SYNDROME, TYPE 8; MKS8


Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

Medium match FAMILIAL VISCERAL MYOPATHY


Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

Medium match DENYS-DRASH SYNDROME; DDS


DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

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Other less relevant matches:

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

Medium 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

Medium match ACHONDROGENESIS, TYPE IA; ACG1A


The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (OMIM ), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. Genetic Heterogeneity of AchondrogenesisAchondrogenesis type IB (ACG1B ) is caused by mutation in the DTDST gene (OMIM ), and achondrogenesis type II (ACG2 ) is caused by mutation in the COL2A1 gene (OMIM ).

ACHONDROGENESIS, TYPE IA; ACG1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about ACHONDROGENESIS, TYPE IA; ACG1A

Medium match PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE


Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.

PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE Is also known as platyspondylic dysplasia, torrance-luton type|thanatophoric dysplasia, torrance variant|lethal short-limbed platyspondylic dwarfism, torrance type|platyspondylic lethal skeletal dysplasia, torrance type|plsd-t

Related symptoms:

  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE

Medium 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

Medium match DIAPHANOSPONDYLODYSOSTOSIS


Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

Medium match BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION


Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Top 5 symptoms//phenotypes associated to Cleft palate and Abdominal distention

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Protuberant abdomen Uncommon - Between 30% and 50% cases
Narrow chest Uncommon - Between 30% and 50% cases
Short thorax Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Polyhydramnios Short neck Talipes equinovarus Low-set ears Macrocephaly Enlarged kidney Inguinal hernia Respiratory distress Hernia Intellectual disability Umbilical hernia Micromelia Depressed nasal bridge Abnormality of the kidney Short nose

Rare Symptoms - Less than 30% cases


Short ribs Short long bone Hypoplastic pubic bone Cleft lip Disproportionate short stature Genu varum Hypoplastic ischia Vomiting Limb undergrowth Flat face Platyspondyly Epicanthus Severe short stature Broad forehead Brachydactyly Wide nasal bridge Synophrys Syndactyly Pulmonary hypoplasia Disproportionate short-trunk short stature Hypoplastic scapulae Unossified vertebral bodies Malar flattening Thin ribs Thoracic hypoplasia Hydrops fetalis Nephroblastoma Abnormality of the ribs Premature birth Short foot Proptosis Abnormality of the skeletal system Generalized hypotonia Mandibular prognathia Short stature Lethal skeletal dysplasia Prominent nasal bridge Anteverted nares Depressed nasal ridge Renal dysplasia Aganglionic megacolon Hearing impairment Abnormality of cardiovascular system morphology Edema Camptodactyly of finger Respiratory insufficiency Clinodactyly Intellectual disability, severe Jaundice Atrial septal defect Sensorineural hearing impairment Failure to thrive Severe limb shortening Decreased cranial base ossification Disc-like vertebral bodies Flexion contracture Spastic paraplegia Diastasis recti Telecanthus Blepharophimosis Arthrogryposis multiplex congenita Abnormal eyebrow morphology Paraplegia Abnormality of skin pigmentation Thick vermilion border Capillary hemangioma Hypopigmentation of the skin Nevus flammeus Underdeveloped nasal alae Neonatal hypoglycemia Anorexia Joint contracture of the hand Severe platyspondyly Abnormality of the abdominal wall Abnormality of the carpal bones Short palm Broad clavicles Auricular pit Abnormal enchondral ossification Posterior helix pit Beaded ribs Hemifacial hypertrophy Abnormal foot bone ossification Abnormal hand bone ossification Abnormality of the femoral metaphysis Anterior creases of earlobe Prominent forehead Skeletal dysplasia Coarse facial features Short distal phalanx of finger Neonatal short-limb short stature Asymmetry of the thorax Abdominal wall defect Bowing of the long bones Visceromegaly Disproportionate short-limb short stature Flared metaphysis Hemihypertrophy Flat acetabular roof Mild global developmental delay Hypoplastic pelvis Hypoplastic ilia Metaphyseal cupping Hypoplasia of the capital femoral epiphysis Hypopigmented skin patches Scapular winging Albinism Congenital sensorineural hearing impairment Absent or minimally ossified vertebral bodies Vertebral segmentation defect Facial asymmetry Tracheomalacia Multiple renal cysts Bell-shaped thorax Myelomeningocele Missing ribs Hypoplastic fingernail Cystic renal dysplasia Enlarged thorax Increased nuchal translucency Narrow pelvis bone Abnormal vertebral segmentation and fusion Nephroblastomatosis Hematuria Nephrogenic rest Abnormal liver lobulation Lumbosacral meningocele Absent in utero rib ossification Deeply set eye Unossified sacrum Absent in utero ossification of vertebral bodies Intralobar nephroblastomatosis Cryptorchidism Hepatomegaly Ventricular septal defect Abnormality of the dentition Splenomegaly Patent ductus arteriosus Hammertoe Large fontanelles Abnormality of the ureter White forelock Brachycephaly Premature graying of hair Cutaneous finger syndactyly Sprengel anomaly Large for gestational age Vitiligo Abnormality of the outer ear Carpal synostosis Blue irides Heterochromia iridis White hair Abnormality of the face Cardiomegaly Atelectasis Bronchomalacia Small nail Narrow naris Partial albinism Overgrowth Poliosis Global developmental delay Muscular hypotonia Prominent nose Full cheeks Intrauterine growth retardation Polymicrogyria Renal cyst Macroglossia Webbed neck Oligohydramnios Dacryocystitis Pericardial effusion Femoral hernia Low-grade fever Abnormality of the genital system Glomerulosclerosis Glomerulonephritis Focal segmental glomerulosclerosis Glomerulopathy Gonadal dysgenesis Aniridia Male pseudohermaphroditism Gonadoblastoma Abnormal renal physiology Ambiguous genitalia, male Diffuse mesangial sclerosis Ambiguous genitalia, female Uterus didelphys Streak ovary Nephrotic syndrome Anuria True hermaphroditism Ovarian gonadoblastoma Gonadal tissue inappropriate for external genitalia or chromosomal sex Scoliosis Postaxial hand polydactyly Myopia Gait disturbance Cleft upper lip Kyphosis Osteopenia Pes planus Hyperlordosis Pectus carinatum Primary amenorrhea Congenital diaphragmatic hernia Abnormality of the pinna Megacystis Anophthalmia Hyperechogenic kidneys Equinovarus deformity Polycystic kidney dysplasia Low-set, posteriorly rotated ears Joint stiffness Arachnodactyly Vesicoureteral reflux Round face Hydroureter Anonychia Hyperparathyroidism Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Encephalocele Ambiguous genitalia Nystagmus Neoplasm Hypertension Fever Renal insufficiency Recurrent infections Micropenis Weight loss Proteinuria Pallor Lethargy Stage 5 chronic kidney disease Nephropathy Amenorrhea Genu valgum Retinal detachment Multiple epiphyseal dysplasia Long philtrum Hyponatremia Keratitis Preauricular pit Mild short stature Abnormality of digit Corneal erosion Optic nerve coloboma Rectovaginal fistula Villous atrophy Ureteral duplication Protracted diarrhea Secretory diarrhea Intractable diarrhea Frontal bossing Respiratory failure Abnormal intestine morphology Corneal opacity Occipital encephalocele Short chin Hypoplasia of the radius Growth abnormality Epiphyseal dysplasia Cystic hygroma Protruding tongue Short clavicles Upper limb undergrowth Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Barrel-shaped chest Decreased skull ossification Cutis laxa Choanal atresia Osteoarthritis Narrow greater sacrosciatic notches Abnormality of the metaphysis Abnormality of epiphysis morphology Increased bone mineral density Coxa vara Hemangioma Abnormality of the urinary system Metaphyseal irregularity Spondyloepiphyseal dysplasia Short femoral neck Abnormality of the sternum Hypoplasia of the odontoid process Delayed epiphyseal ossification Spondyloepimetaphyseal dysplasia Anterior rib cupping Delayed pubic bone ossification Gastrointestinal hemorrhage Abnormality of the liver Intestinal malrotation Bifid uvula Metabolic acidosis Single transverse palmar crease Anal atresia Toe syndactyly Microphthalmia C1-C2 subluxation Acidosis Abnormality of metabolism/homeostasis Diarrhea Polydactyly Metaphyseal dappling Club-shaped proximal femur Congenital megaureter



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