Cleft palate, and Inguinal hernia

Diseases related with Cleft palate and Inguinal hernia

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


Top matches:

Medium match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

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 CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

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Other less relevant matches:

Medium match 15Q14 MICRODELETION SYNDROME


15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

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 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 ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

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

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

Symptoms // Phenotype % cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Flat face Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect Severe short stature Micromelia Hearing impairment Overgrowth Short stature Micrognathia Hypertelorism Cleft lip Premature birth Talipes equinovarus Scoliosis Edema

Rare Symptoms - Less than 30% cases


Hypoplasia of the maxilla Prominent nasal bridge Short philtrum Abnormal cardiac septum morphology Coloboma Omphalocele Abnormality of the face Microphthalmia Retinal detachment Conductive hearing impairment Limb undergrowth Visual loss Abnormality of the outer ear Short nose Hypogonadism Macroglossia Pes planus Kyphosis Long philtrum Abnormality of the kidney Gait disturbance Myopia Hypoglycemia Choanal atresia Polyhydramnios Micropenis Cataract Splenomegaly Hepatomegaly Delayed speech and language development High palate Seizures Iris coloboma Sensorineural hearing impairment Bifid uvula Anterior creases of earlobe Anophthalmia Narrow mouth Posteriorly rotated ears Abdominal wall defect Malar flattening Corneal opacity Embryonal neoplasm Narrow chest Wide nasal bridge Hyposmia Disproportionate short stature Protuberant abdomen Auricular pit Intellectual disability Abnormality of epiphysis morphology Short thorax Anosmia Neonatal hypoglycemia Abnormality of the dentition Large for gestational age Thoracic hypoplasia Low-set ears Short long bone Enlarged kidney Nevus flammeus Abnormality of the metaphysis Diastasis recti Blue sclerae Hemihypertrophy Visceromegaly Hypospadias Short neck Encephalocele Primary amenorrhea Hypogonadotrophic hypogonadism Dental malocclusion Broad nasal tip Delayed puberty Abnormality of the ribs Synophrys Epiphyseal dysplasia Thickened nuchal skin fold Upper limb undergrowth Short clavicles Protruding tongue Thin ribs Cystic hygroma Abnormality of cardiovascular system morphology Barrel-shaped chest Growth abnormality Respiratory failure Proptosis Hypoplasia of the radius Short foot Short chin Short ribs Aplasia/Hypoplasia of the lungs Scrotal hypoplasia Muscular dystrophy Beaded ribs Midface retrusion Visual impairment Abnormality of the femoral metaphysis Abnormal hand bone ossification Abnormal foot bone ossification Unossified vertebral bodies Abnormal enchondral ossification Decreased skull ossification Broad clavicles Hypoplastic ischia Femoral hernia Lethal skeletal dysplasia Hydrops fetalis Multiple epiphyseal dysplasia Disproportionate short-trunk short stature Hypoplastic scapulae Abnormality of the sense of smell Reduced number of teeth Strabismus Increased susceptibility to fractures Hallux valgus Keratoconus Megalocornea Soft skin Sclerocornea Corneal erosion Corneal scarring Shoulder dislocation Flat cornea Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Patent ductus arteriosus Corneal dystrophy Polydactyly Coarse facial features Apnea Renal cyst Psoriasiform dermatitis Supernumerary nipple Neuroblastoma Syringomyelia Central hypotonia Abnormality of the vasculature Skin tags Abnormality of earlobe Tethered cord Prune belly Hyperextensible skin Cutis laxa Limb-girdle muscular dystrophy Osteoporosis Preauricular pit Agenesis of permanent teeth Hypoplastic labia majora Lacrimation abnormality Hypoplasia of teeth Diastema Lacrimal duct stenosis Abnormality of the skeletal system Aplasia/Hypoplasia involving the nose Frontal encephalocele Aplasia of the nose Absent paranasal sinuses Pectus excavatum Glaucoma Congenital hip dislocation Neonatal hypotonia Myalgia Camptodactyly Hip dislocation Pulmonic stenosis Joint hyperflexibility Arachnodactyly Joint hypermobility Bruising susceptibility Recurrent fractures Microcornea Hip dysplasia Mitral valve prolapse High myopia Anteverted nares Acne Frontal bossing Abnormal palate morphology Blepharophimosis Anal atresia Cleft upper lip Thin vermilion border Prominent nose Underdeveloped nasal alae Renal hypoplasia Short palpebral fissure Renal dysplasia Preauricular skin tag Narrow palpebral fissure Abnormality of vision Feeding difficulties in infancy 2-3 toe syndactyly Mixed hearing impairment External ear malformation Eyelid coloboma Hypomimic face Secundum atrial septal defect Unilateral cleft lip Median cleft palate Bilateral choanal atresia Lower eyelid coloboma Bilateral choanal atresia/stenosis Neoplasm Protruding ear Abnormality of the eye Clinodactyly Abnormality of the midface Blindness Hypoplasia of penis Amblyopia Gynecomastia External genital hypoplasia Submucous cleft hard palate Misalignment of teeth Abdominal wall muscle weakness Failure of eruption of permanent teeth Single naris Absent nares Hypoplasia of the olfactory bulb Mandibular prognathia Respiratory insufficiency Joint stiffness Pulmonary hypoplasia Depressed nasal ridge Bowing of the long bones Disproportionate short-limb short stature Abnormality of pelvic girdle bone morphology Calvarial skull defect Abnormality of the abdominal wall Neonatal short-limb short stature Anisospondyly Abnormality of metabolism/homeostasis Muscle weakness Abnormal heart morphology Macrocephaly Spondyloepiphyseal dysplasia Hyperlordosis Pectus carinatum Platyspondyly Genu valgum Osteoarthritis Increased bone mineral density Coxa vara Hemangioma Genu varum Abnormality of the urinary system Metaphyseal irregularity Short femoral neck Respiratory distress Abnormality of the sternum Hypoplasia of the odontoid process Delayed epiphyseal ossification Spondyloepimetaphyseal dysplasia Anterior rib cupping Hypoplastic pubic bone Narrow greater sacrosciatic notches Delayed pubic bone ossification C1-C2 subluxation Club-shaped proximal femur Metaphyseal dappling Depressed nasal bridge Osteopenia Brachydactyly Autistic behavior Intellectual disability, moderate Facial asymmetry Nephroblastoma Abnormality of the ureter Rhabdomyosarcoma Global developmental delay Generalized hypotonia Microcephaly Motor delay Immunodeficiency Autism High forehead Deeply set eye Low-set, posteriorly rotated ears Everted upper lip vermilion Smooth philtrum Oral cleft Long face Bulbous nose Everted lower lip vermilion Highly arched eyebrow Convex nasal ridge Narrow forehead Pointed chin Tented upper lip vermilion Laryngomalacia Biparietal narrowing Postauricular pit



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Thrombocytopenia, related diseases and genetic alterations Hepatomegaly and Anxiety, related diseases and genetic alterations Delayed speech and language development and Cerebellar vermis hypoplasia, related diseases and genetic alterations Myopathy and Umbilical hernia, related diseases and genetic alterations

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