Cleft palate, and Webbed neck

Diseases related with Cleft palate and Webbed neck

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


Top matches:

Medium match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Medium match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Medium match KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1


Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

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Other less relevant matches:

Medium match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Medium match RICHIERI COSTA-PEREIRA SYNDROME


Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.

RICHIERI COSTA-PEREIRA SYNDROME Is also known as short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|richieri-costa-pereira syndrome|rcps|short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RICHIERI COSTA-PEREIRA SYNDROME

Medium match GORDON SYNDROME


Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3


The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Medium match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Medium match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

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

Top 5 symptoms//phenotypes associated to Cleft palate and Webbed neck

Symptoms // Phenotype % cases
Short neck Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Scoliosis Global developmental delay Bifid uvula Facial asymmetry High palate Ventricular septal defect Talipes equinovarus Cryptorchidism Intellectual disability Epicanthus Clinodactyly of the 5th finger Respiratory distress Abnormality of cardiovascular system morphology Abnormality of the pinna Sensorineural hearing impairment Abnormality of the ribs Short phalanx of finger Abnormal vertebral segmentation and fusion Ptosis Generalized hypotonia

Rare Symptoms - Less than 30% cases


Limited neck range of motion Decreased cervical spine mobility Cervical C2/C3 vertebral fusion Sprengel anomaly Congenital muscular torticollis Fused cervical vertebrae Cognitive impairment Vertebral fusion Low posterior hairline Cleft upper lip Conductive hearing impairment Anteverted nares Kyphoscoliosis Wide nasal bridge Bilateral talipes equinovarus Intrauterine growth retardation Pectus excavatum High myopia Myopia Muscular hypotonia Mesomelia Protruding ear Cleft lip Narrow mouth Macrocephaly Decreased muscle mass Ectopic anus Wide intermamillary distance Depressed nasal bridge Camptodactyly Anal atresia Short nose Microtia Sparse eyebrow Flexion contracture Downslanted palpebral fissures Knee flexion contracture Mixed hearing impairment Hip dislocation Arthrogryposis multiplex congenita Midface retrusion Submucous cleft hard palate Feeding difficulties Anemia Abnormal facial shape Bilateral single transverse palmar creases Abnormal liver lobulation Abnormality of the fingernails Polycystic ovaries Hypoplasia of penis Hypoplastic toenails Non-midline cleft lip Lumbosacral meningocele Microcytic anemia Renal cyst Iron deficiency anemia Increased serum ferritin Abnormality of the elbow Convex nasal ridge Pulverulent cataract Seizures Delayed speech and language development Dysarthria Gait disturbance Nephrogenic rest Absent speech Myoclonus Osteoporosis Nuclear cataract Joint stiffness Absent in utero rib ossification Agenesis of permanent teeth Patent ductus arteriosus Upslanted palpebral fissure Proptosis Telecanthus Downturned corners of mouth Dental malocclusion Blue sclerae Broad thumb Long eyelashes Gingival overgrowth Patent foramen ovale Tricuspid regurgitation Anteriorly placed anus Unossified sacrum Pulmonary artery atresia Hypoplastic right heart Microcephaly Strabismus Cataract Visual impairment Absent in utero ossification of vertebral bodies Macrotia Photophobia Low-set, posteriorly rotated ears Mandibular prognathia Severe global developmental delay Congenital cataract Brachycephaly Pectus carinatum Difficulty walking Long hallux Spontaneous abortion Nasal speech Enlarged kidney Tracheomalacia Disproportionate tall stature Long fingers Slender finger Protuberant abdomen Epileptic spasms Vertebral segmentation defect Slender build Hyperextensibility of the finger joints Small earlobe Thoracic hypoplasia Narrow face Narrow palm Focal motor seizures Short thorax Hammertoe Large fontanelles Renal dysplasia Depressed nasal ridge Small nail Oligohydramnios Long palm Asymmetry of the ears Respiratory insufficiency Inguinal hernia Polymicrogyria Multiple renal cysts Bell-shaped thorax Intellectual disability, moderate Bulbous nose Pulmonary hypoplasia Short philtrum Unossified vertebral bodies Prominent nasal bridge Synophrys Abnormality of movement Nephroblastomatosis Absent or minimally ossified vertebral bodies Narrow pelvis bone Increased nuchal translucency Smooth philtrum Arachnodactyly Unsteady gait High, narrow palate Clinodactyly Recurrent fractures Postural instability Generalized myoclonic seizures Intellectual disability, profound Enlarged thorax Thick lower lip vermilion Broad-based gait Cystic renal dysplasia Tall stature Disproportionate short-trunk short stature Dental crowding Hypoplastic fingernail Missing ribs Myelomeningocele Hyperpigmentation of the skin Hyperlordosis Long philtrum External ear malformation Cleft soft palate Left ventricular noncompaction Abnormal levels of creatine kinase in blood Increased endomysial connective tissue Minicore myopathy Mitochondrial depletion Intestinal malrotation Otitis media Abnormality of the genitourinary system Relative macrocephaly Unilateral renal agenesis Rocker bottom foot Stiff neck Difficulty running Bimanual synkinesia Posterior fossa cyst Moderate hearing impairment Abnormality of limb bone morphology Mild conductive hearing impairment Cervicomedullary schisis Polydactyly Abnormality of the kidney Flat face Postaxial polydactyly Spina bifida Renal hypoplasia/aplasia Hemiplegia/hemiparesis Ankle contracture Centrally nucleated skeletal muscle fibers Abnormal cranial nerve morphology Atrial septal defect Malar flattening Hernia Posteriorly rotated ears Congenital diaphragmatic hernia Sparse and thin eyebrow Macrocytic anemia Severe sensorineural hearing impairment Broad neck Granulocytopenia Mandibulofacial dysostosis Muscle weakness Motor delay Cardiomyopathy Myopathy Difficulty climbing stairs Congestive heart failure Arrhythmia Elevated serum creatine phosphokinase Neonatal hypotonia Facial palsy Abnormal cardiac septum morphology Muscular dystrophy Dilated cardiomyopathy Generalized muscle weakness Radioulnar synostosis Congenital muscular dystrophy Calf muscle hypertrophy Myopathic facies Abnormality of the vertebral column Short sternum Kyphosis Interphalangeal joint contracture of finger Deeply set eye Retinopathy Camptodactyly of finger Finger syndactyly Ophthalmoplegia Abnormality of the foot Talipes Abnormality of skin pigmentation Single transverse palmar crease Triangular face Limitation of joint mobility Dandy-Walker malformation Lumbar hyperlordosis Abnormal vertebral morphology Intellectual disability, mild Congenital hip dislocation Pterygium Overlapping toe Cutaneous finger syndactyly Distal arthrogryposis Thoracolumbar scoliosis Down-sloping shoulders Abnormality of the rib cage Decreased hip abduction Ulnar deviation of the hand or of fingers of the hand Camptodactyly of toe Brachydactyly Frontal bossing Syndactyly Cleft mandible Abnormality of the shoulder Hypoplasia of the ulna Abnormal sacrum morphology Aplasia of the ulna Prominent nose Short metacarpal Limb undergrowth Short thumb Hoarse voice Microretrognathia Abnormality of the outer ear Hypoplasia of the radius Abnormality of the hand Abnormality of the voice Proximal placement of thumb Fibular hypoplasia Cleft lower alveolar ridge Pierre-Robin sequence Short tibia Abnormality of the larynx Acetabular dysplasia Hip subluxation Hypoplasia of the epiglottis Radial deviation of the hand Absent foot Tibial deviation of toes Aplasia of the epiglottis Agenesis of mandibular central incisor Pansynostosis Abnormality of the aryepiglottic fold Intralobar nephroblastomatosis



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