Cleft palate, and Large fontanelles

Diseases related with Cleft palate and Large fontanelles

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


Top matches:

Low match SWEENEY-COX SYNDROME; SWCOS


Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Low match ACROMELIC FRONTONASAL DYSOSTOSIS; AFND


Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSOSTOSIS; AFND

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Other less relevant matches:

Low match SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20


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}).

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20

Low match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Low match ACROMELIC FRONTONASAL DYSPLASIA


Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Low match MEIER-GORLIN SYNDROME 7; MGORS7


Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 7; MGORS7

Low match ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE


Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.

ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE Is also known as rodriguez lethal acrofacial dysostosis syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE

Low match CLEIDOCRANIAL DYSPLASIA; CCD


The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA; CCD

Low 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

Top 5 symptoms//phenotypes associated to Cleft palate and Large fontanelles

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Wide anterior fontanel Common - Between 50% and 80% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Micrognathia Low-set ears High palate Narrow chest Microtia Short stature Brachycephaly Preaxial polydactyly Intellectual disability Pulmonary hypoplasia Scoliosis Parietal foramina Frontal bossing Ptosis Malar flattening Growth delay Hearing impairment Patellar hypoplasia Midface retrusion Anal atresia Abnormal facial shape Myopia Depressed nasal bridge Craniosynostosis Abnormality of the skeletal system Narrow mouth

Rare Symptoms - Less than 30% cases


Bifid nose Bifid nasal tip Preaxial foot polydactyly Upper airway obstruction Hypopituitarism Agenesis of corpus callosum Overlapping toe Ventriculomegaly Polydactyly Hypoplasia of the corpus callosum Short nose Broad nasal tip Wide nose Cleft lip Telecanthus Glaucoma Encephalocele Complete atrioventricular canal defect Large sella turcica Joint laxity Respiratory distress Intrauterine growth retardation Coronal craniosynostosis Depressed nasal ridge Microcephaly Prominent nose Prominent nasal bridge Sparse hair Wide mouth Pes planus Retrocerebellar cyst Skeletal dysplasia Macrocephaly Short tibia Fibular hypoplasia Short ribs Micropenis Respiratory insufficiency Short neck Choroid plexus cyst Seizures Delayed eruption of teeth Osteolytic defects of the phalanges of the hand Bilateral talipes equinovarus Talipes Wormian bones Short philtrum Syndactyly Clubbing Widow's peak Thickened calvaria Gastroesophageal reflux Median cleft palate Choanal atresia Osteopenia Delayed speech and language development Short clavicles Hyperhidrosis Sprengel anomaly Aplasia/Hypoplasia of the radius Oligodactyly Short humerus 11 pairs of ribs Aqueductal stenosis Supernumerary nipple Hand oligodactyly Triphalangeal thumb Abnormality of the uterus Arrhinencephaly Phocomelia Abnormality of pelvic girdle bone morphology Aplasia/Hypoplasia of the ulna Deep-set nails Absent forearm Brachydactyly Abnormality of the dentition Kyphosis Mandibular prognathia Intellectual disability, moderate Genu valgum High, narrow palate Dental malocclusion Otitis media Radioulnar synostosis Abnormal form of the vertebral bodies Renal hypoplasia/aplasia Arnold-Chiari type I malformation Abnormality of the glabella Strabismus Ventricular septal defect Atrial septal defect Hypospadias Proptosis Vesicoureteral reflux Decreased body weight Progressive microcephaly Clitoral hypertrophy Bowing of the legs 2-3 toe syndactyly Mild short stature Anal stenosis Sagittal craniosynostosis Microretrognathia Thin eyebrow Anterior plagiocephaly Aplasia/Hypoplasia of the patella Duodenal stenosis Urethral stricture Abnormality of cardiovascular system morphology Clinodactyly Posteriorly rotated ears Deeply set eye Coloboma Finger syndactyly Single transverse palmar crease Hypoplasia of dental enamel Thin skin Recurrent otitis media Neonatal respiratory distress Increased bone mineral density Missing ribs Oligohydramnios Abnormality of the ribs Small nail Renal dysplasia Hammertoe Short thorax Thoracic hypoplasia Vertebral segmentation defect Protuberant abdomen Tracheomalacia Enlarged kidney Multiple renal cysts Bell-shaped thorax Myelomeningocele Hypoplastic fingernail Renal cyst Unossified vertebral bodies Absent in utero ossification of vertebral bodies Unossified sacrum Absent in utero rib ossification Lumbosacral meningocele Abnormal liver lobulation Nephrogenic rest Nephroblastomatosis Disproportionate short-trunk short stature Absent or minimally ossified vertebral bodies Abnormal vertebral segmentation and fusion Narrow pelvis bone Increased nuchal translucency Enlarged thorax Cystic renal dysplasia Webbed neck Polymicrogyria Coxa vara Abnormality of the clavicle Cervical ribs Aplastic clavicle Short middle phalanx of the 5th finger Spondylolisthesis Hypoplastic iliac wing Hypoplastic scapulae Cone-shaped epiphyses of the phalanges of the hand Delayed eruption of primary teeth Syringomyelia Increased number of teeth Short femoral neck Hypoplasia of the olfactory bulb Cone-shaped epiphysis Increased susceptibility to fractures Delayed eruption of permanent teeth Absent frontal sinuses Inguinal hernia Wide pubic symphysis Epicanthus Muscular hypotonia Generalized hypotonia Abnormal facility in opposing the shoulders Long second metacarpal Persistent open anterior fontanelle Delayed pubic bone ossification Parietal bossing Absent paranasal sinuses Short middle phalanx of the 2nd finger Large foramen magnum Spondylolysis Moderately short stature Hypoplastic frontal sinuses Midline central nervous system lipomas Calvarial skull defect Aplasia/Hypoplasia of the tibia Oral cleft U-Shaped upper lip vermilion Delayed skeletal maturation Frontal balding Abnormal heart morphology Midline defect of the nose Patent ductus arteriosus Pectus excavatum Vertical clivus Flexion contracture Pain Neoplasm Microphthalmia Upper eyelid coloboma Abnormality of the pinna Postaxial polydactyly Thick nail Tetralogy of Fallot Low posterior hairline Velopharyngeal insufficiency Natal tooth Asplenia Thoracic dysplasia Short columella Lateral clavicle hook Horizontal ribs Uterus didelphys Hypoplastic pubic bone Long thorax Hamartoma of tongue Multiple skeletal anomalies Osteoporosis Coarse facial features Septate vagina Acne Seborrheic dermatitis Long clavicles Wide cranial sutures Hip pain Eczematoid dermatitis Periostosis Subperiosteal bone formation Flushing Heart block Motor delay Joint swelling Growth hormone excess Arthropathy Disproportionate tall stature Patent foramen ovale Arthralgia Redundant skin Palmoplantar hyperkeratosis Cleft upper lip Thickened skin Limitation of joint mobility Heterotopia Oligodontia Skin rash Bilateral cryptorchidism Erythema Arthritis Facial cleft Lipoma Broad foot Laryngeal hypoplasia Decreased calvarial ossification Dermoid cyst Hyperkeratosis Premature loss of teeth Capillary hemangioma Decreased skull ossification Delayed closure of the anterior fontanelle Hypoplasia of teeth Narrow iliac wings High iliac wings Sutural cataract Posterior Y-sutural cataract Posterior wedging of vertebral bodies Punctate cataract Forehead hyperpigmentation Alopecia Upslanted palpebral fissure Cerebellar vermis hypoplasia Prominent supraorbital ridges Short palpebral fissure Hypohidrosis Sparse and thin eyebrow Sparse eyelashes Median cleft lip Meningocele Cerebellar hypoplasia Abnormal toenail morphology Clubbing of fingers Alopecia totalis Broad columella Thick nasal alae Anterior pituitary hypoplasia Decreased lacrimation Brittle hair Coarse hair Large posterior fontanelle Overfolded helix Absent nasal bridge Narrow sacroiliac notch Esophageal diverticulum Broad neck Failure to thrive Cataract Prominent metopic ridge Optic atrophy Anteverted nares Long philtrum Long fingers Prominent forehead Cupped ear Thin upper lip vermilion Cutaneous syndactyly Hemangioma Generalized hirsutism Carious teeth Pulmonic stenosis Joint hyperflexibility Smooth philtrum Abnormality of skin pigmentation Thin vermilion border Underdeveloped nasal alae Hypoplasia of the maxilla Bifid uvula Hirsutism Esotropia Microdontia Hyperpigmentation of the skin Intralobar nephroblastomatosis



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