Cleft palate, and Umbilical hernia

Diseases related with Cleft palate and Umbilical hernia

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


Top matches:

Medium match DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE


Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

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

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Other less relevant matches:

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 BRITTLE CORNEA SYNDROME


Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Medium match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Medium match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium match PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Top 5 symptoms//phenotypes associated to Cleft palate and Umbilical hernia

Symptoms // Phenotype % cases
Inguinal hernia Common - Between 50% and 80% cases
Hernia Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Patent ductus arteriosus Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pes planus Edema Micrognathia Overgrowth Macroglossia Premature birth Arachnodactyly Soft skin Anteverted nares Blue sclerae Bruising susceptibility Scoliosis Sensorineural hearing impairment Hearing impairment Talipes equinovarus Narrow chest

Rare Symptoms - Less than 30% cases


Hypertelorism Myopia Cutis laxa Hyperextensible skin Increased susceptibility to fractures Protruding tongue High palate Depressed nasal bridge Abnormality of cardiovascular system morphology Microcephaly Auricular pit Embryonal neoplasm Abdominal wall defect Mitral valve prolapse Frontal bossing Macrocephaly Joint hypermobility Upper limb undergrowth Ventricular hypertrophy Global developmental delay Camptodactyly Failure to thrive Short chin Pulmonic stenosis Hemihypertrophy Osteoporosis Microcornea Long philtrum Left ventricular hypertrophy Short neck Abnormality of the dentition Abnormality of the skeletal system Gait disturbance Visceromegaly Anterior creases of earlobe Diastasis recti Nevus flammeus Polyhydramnios Strabismus Splenomegaly Hepatomegaly Muscle weakness Polydactyly Seizures Thoracic hypoplasia Abnormality of the kidney Flat face Micromelia Joint stiffness Severe short stature Atrial septal defect Cardiomyopathy Wide nasal bridge Hypoglycemia Coarse facial features Disproportionate tall stature Abnormality of the outer ear Neonatal hypoglycemia Omphalocele Abnormality of the face Enlarged kidney Large for gestational age Abnormal eye morphology Mitral regurgitation Atrial fibrillation Osteopenia Kyphoscoliosis Osteoarthritis Difficulty climbing stairs Elevated serum creatine phosphokinase Atrophic scars Hyperkeratosis Dental malocclusion Myopathy Aortic aneurysm Follicular hyperkeratosis Aortic regurgitation Bicuspid aortic valve Scarring Waddling gait Muscular dystrophy Cleft soft palate Congenital muscular dystrophy Poor suck Arterial rupture Easy fatigability High-frequency sensorineural hearing impairment Keloids Pain Bladder diverticulum Poor head control Abnormality of the foot Headache Dilatation Severe muscular hypotonia Hypotelorism Joint laxity Migraine Sloping forehead Aortic rupture Back pain Intrauterine growth retardation Abnormality of the sternum Neutropenia Lissencephaly Failure to thrive in infancy Cutis marmorata Severe failure to thrive Periorbital fullness Skull asymmetry Intellectual disability Kyphosis Thrombocytopenia Pes cavus Prominent forehead Skeletal dysplasia Leukemia Generalized tonic-clonic seizures Eczema Dandy-Walker malformation Short 5th metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Abnormality of chromosome segregation Recurrent otitis media Short 4th metacarpal Acute lymphoblastic leukemia Lower limb hyperreflexia Mild short stature Foot dorsiflexor weakness Gingival overgrowth Small nail Delayed myelination Slender finger Intervertebral disc degeneration Abnormal joint morphology Striae distensae Subarachnoid hemorrhage Dilatation of the cerebral artery Aortic dissection Spondylolisthesis Low back pain Osteochondritis Dissecans Thoracic aortic aneurysm Hip osteoarthritis Arterial tortuosity Dural ectasia Abdominal aortic aneurysm Protrusio acetabuli Uterine prolapse Bifid uvula Absent speech Thin vermilion border Severe global developmental delay Wide mouth Hypertrophic cardiomyopathy Retrognathia Obesity Hypertonia Knee osteoarthritis Hydrocephalus Hypoplasia of the corpus callosum Epicanthus Brachydactyly Abnormal facial shape Growth delay Skeletal muscle atrophy Abnormality of epiphysis morphology Motor delay Proptosis Vesicoureteral reflux Round face Aganglionic megacolon Hydroureter Anonychia Hyperparathyroidism Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Megacystis Short nose Respiratory failure Corneal opacity Broad forehead Short foot Limb undergrowth Abnormality of the ribs Hydrops fetalis Short ribs Hypoplasia of the radius Growth abnormality Epiphyseal dysplasia Short thorax Cystic hygroma Disproportionate short stature Thin ribs Abdominal distention Prominent nasal bridge Protuberant abdomen Abnormality of the abdominal wall Respiratory insufficiency Malar flattening Posteriorly rotated ears Narrow mouth Pulmonary hypoplasia Depressed nasal ridge Abnormality of the metaphysis Bowing of the long bones Disproportionate short-limb short stature Short long bone Abnormality of pelvic girdle bone morphology Calvarial skull defect Neonatal short-limb short stature Camptodactyly of finger Anisospondyly Neoplasm Delayed speech and language development Clinodactyly Abnormal heart morphology Micropenis Autistic behavior Facial asymmetry Nephroblastoma Abnormality of the ureter Rhabdomyosarcoma Low-set, posteriorly rotated ears Short clavicles Thickened nuchal skin fold Flexion contracture Renal cyst Keratoconus Megalocornea Sclerocornea Corneal erosion Corneal scarring Shoulder dislocation Flat cornea Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Hypospadias Apnea Psoriasiform dermatitis Corneal dystrophy Supernumerary nipple Neuroblastoma Syringomyelia Central hypotonia Abnormality of the vasculature Skin tags Abnormality of earlobe Tethered cord Prune belly Postauricular pit Generalized hypotonia Muscular hypotonia Hallux valgus Congenital hip dislocation Aplasia/Hypoplasia of the lungs Abnormal foot bone ossification Barrel-shaped chest Hypoplastic scapulae Decreased skull ossification Disproportionate short-trunk short stature Multiple epiphyseal dysplasia Lethal skeletal dysplasia Femoral hernia Hypoplastic ischia Broad clavicles Abnormal enchondral ossification Beaded ribs Unossified vertebral bodies Abnormal hand bone ossification High myopia Abnormality of the femoral metaphysis Pectus excavatum Visual loss Glaucoma Conductive hearing impairment Neonatal hypotonia Myalgia Hip dislocation Joint hyperflexibility Retinal detachment Recurrent fractures Hip dysplasia Short 3rd metacarpal



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