Cleft palate, and Dolichocephaly

Diseases related with Cleft palate and Dolichocephaly

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


Top matches:

Medium match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Medium match MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3


Related symptoms:

  • Cleft palate
  • Flexion contracture
  • Syndactyly
  • Proptosis
  • Craniosynostosis


SOURCES: MESH OMIM MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3

Medium match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

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Other less relevant matches:

Medium match SCHNECKENBECKEN DYSPLASIA


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Medium match INTELLECTUAL DISABILITY, BIRK-BAREL TYPE


Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Medium 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

Medium match VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX


VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see {192350}). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).

VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX Is also known as vacterl-h, x-linked

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ventricular septal defect
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MENDELIAN

More info about VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX

Medium match SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2


An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

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

Symptoms // Phenotype % cases
High palate Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Retrognathia Intellectual disability Seizures Syndactyly Deep philtrum Macrocephaly Scaphocephaly Hypotelorism Narrow forehead Intellectual disability, severe Micrognathia

Rare Symptoms - Less than 30% cases


Short nose Midface retrusion Hypospadias Ventricular septal defect Broad forehead Astigmatism Oral cleft Short stature Hydrocephalus Thin upper lip vermilion Edema Cryptorchidism Hypoplastic scapulae Wide nose Generalized hypotonia Muscular hypotonia Feeding difficulties Depressivity Clinodactyly Flat acetabular roof Short finger Short neck Accelerated skeletal maturation Low-set ears Short ribs Micromelia Narrow chest High, narrow palate Broad nasal tip Malar flattening Anteverted nares Micropenis Thin vermilion border Epicanthus Flexion contracture Trigonocephaly Toe syndactyly Hypermetropia Craniosynostosis Broad thumb 2-3 toe syndactyly Myopia Microcephaly Short lingual frenulum Talipes equinovarus Abnormality of the pinna Bilateral radial aplasia Bronchogenic cyst Bilateral trilobed lungs Abnormality of the kidney Isomerism Hydronephrosis Agenesis of corpus callosum Obesity Abnormal heart morphology Fused teeth Abnormality of cardiovascular system morphology Thoracic dysplasia Pulmonic stenosis Short uvula Bilateral postaxial polydactyly Inguinal hernia Pneumonia Posteriorly rotated ears Microtia Abnormality of the vertebral column Arteria lusoria Enlarged kidney Atrioventricular canal defect Tracheoesophageal fistula Proximal placement of thumb Hand polydactyly Atresia of the external auditory canal Transposition of the great arteries Short humerus Arnold-Chiari malformation Horseshoe kidney Absent radius Esophageal atresia Broad neck Anal atresia Double outlet right ventricle Abnormal vertebral morphology Asplenia Aqueductal stenosis Heterotaxy Pancreatic hypoplasia Urethral atresia Short thumb Intestinal malrotation Partial agenesis of the corpus callosum Persistent left superior vena cava Coarse facial features U-Shaped upper lip vermilion Respiratory tract infection Left bundle branch block Cardiac arrest Bilateral single transverse palmar creases Scapular winging Ventricular tachycardia Abnormal palate morphology Reduced tendon reflexes Oligodontia Ventricular arrhythmia Growth abnormality Short metatarsal Myotonia Right bundle branch block Prolonged QT interval Ventricular extrasystoles T-wave inversion Hypoplasia of dental enamel Short mandibular rami Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Short digit Torsade de pointes Clinodactyly of the 5th toe First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Short phalanx of finger Palpitations Wide mouth Recurrent upper respiratory tract infections Agenesis of permanent teeth Abnormality of the rib cage Thickened nuchal skin fold Hyperactive deep tendon reflexes Broad palm Radial deviation of finger Intellectual disability, progressive Scoliosis Multicystic kidney dysplasia Congenital hip dislocation Small nail Wide intermamillary distance Tapered finger Single transverse palmar crease Facial capillary hemangioma Cognitive impairment Specific learning disability Small hand Febrile seizures Short metacarpal Syncope Sudden cardiac death Triangular face Hypoplasia of the maxilla Short palm Arrhythmia Bulbous nose Limb muscle weakness Dilated cardiomyopathy Joint laxity Clinodactyly of the 5th finger Elevated serum creatine phosphokinase Cystic hygroma Metaphyseal widening Mesomelia Severe short stature Coloboma Synophrys Microcornea Exotropia Holoprosencephaly Absent thumb Abnormality of digit Facial cleft Single median maxillary incisor Cyclopia Proboscis Small posterior fossa Exencephaly Polyhydramnios Upslanted palpebral fissure Skeletal dysplasia Platyspondyly Abnormality of the metaphysis Abnormal form of the vertebral bodies Lymphedema Spontaneous abortion Abnormality of the fingernails Disproportionate short-limb short stature Metaphyseal irregularity Hypoplastic toenails Fibular hypoplasia Ovoid vertebral bodies Hypoplastic ilia Macrotia Microphthalmia Lateral clavicle hook Brachyturricephaly Downslanted palpebral fissures Frontal bossing Headache Brachycephaly Wormian bones Triphalangeal thumb Visual field defect Increased number of teeth Turricephaly Coronal craniosynostosis Cleft soft palate Cloverleaf skull Anterior plagiocephaly Metopic synostosis Abnormality of the skeletal system Bicoronal synostosis Unicoronal synostosis Proptosis Cutaneous syndactyly Cubitus valgus Broad hallux Cutaneous syndactyly of toes Humeroradial synostosis Hallux varus Metacarpal synostosis Metatarsal synostosis Limited interphalangeal movement Ptosis Depressed nasal bridge Diaphyseal thickening Vertebral hypoplasia Thoracic hypoplasia Pulmonary hypoplasia Gait ataxia Autism Rhizomelia Coxa valga Scrotal hypoplasia Obstructive sleep apnea Broad femoral neck Respiratory insufficiency Renal insufficiency Polydactyly Cleft lip Sparse hair Hepatic failure Short distal phalanx of finger Motor delay Postaxial polydactyly Renal cyst Ascites Nail dysplasia Microdontia Limb undergrowth Renal hypoplasia Fine hair Bowing of the long bones Hydrops fetalis Short long bone Polycystic kidney dysplasia Aplasia/Hypoplasia of the eyebrow Intrauterine growth retardation Cataract Hypoplastic vertebral bodies Hypoglycemia Anterior rib cupping Advanced ossification of carpal bones Severe hydrops fetalis Dumbbell-shaped long bone Unossified vertebral bodies Advanced tarsal ossification Increased fibular diameter Snail-like ilia Muscle weakness Skeletal muscle atrophy Dysphagia Babinski sign Hyperactivity Neonatal hypotonia Failure to thrive Feeding difficulties in infancy Short philtrum Poor speech Thick eyebrow Highly arched eyebrow Sacral dimple Tented upper lip vermilion Dysphonia Spinal muscular atrophy Oral-pharyngeal dysphagia Neonatal hypoglycemia Broad eyebrow Tented philtrum Submucous cleft soft palate Aplasia/Hypoplasia of the maxilla



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