Cleft palate, and Short neck

Diseases related with Cleft palate and Short neck

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


Top matches:

Medium match NEU-LAXOVA SYNDROME 2; NLS2


Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Medium match MECKEL SYNDROME, TYPE 8; MKS8


Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

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Other less relevant matches:

Medium match AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME


Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant|pterygium syndrome, multiple, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Ptosis
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME

Medium match AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS


Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS Is also known as autosomal dominant spondylocostal dysplasia

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS

Medium match MÜLLERIAN APLASIA AND HYPERANDROGENISM


Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

Medium match ATELOSTEOGENESIS TYPE III


Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

Medium match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

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

Medium match CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME


Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

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

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormality of the pinna Uncommon - Between 30% and 50% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Downslanted palpebral fissures Microcephaly Hypertelorism High palate Low-set ears

Rare Symptoms - Less than 30% cases


Pectus excavatum Short philtrum Short thorax Sensorineural hearing impairment Microphthalmia Cleft upper lip Intellectual disability Ventricular septal defect Low-set, posteriorly rotated ears Prominent occiput Abnormality of the ribs Severe short stature Abnormality of cardiovascular system morphology Narrow chest Coloboma Vertebral fusion Broad forehead Micrognathia Depressed nasal ridge Nystagmus Cataract Rocker bottom foot Unilateral renal agenesis Intrauterine growth retardation Skeletal dysplasia Growth delay Hyperlordosis Small for gestational age Severe global developmental delay Frontal bossing Camptodactyly of finger Malar flattening Midface retrusion Toe syndactyly Arachnodactyly Hypoplasia of the maxilla Rhizomelia Autistic behavior Neonatal hypotonia Failure to thrive Behavioral abnormality Horizontal sacrum Radial bowing Flat acetabular roof Knee dislocation Interphalangeal joint contracture of finger Hitchhiker thumb Elbow dislocation Disproportionate short-limb short stature Sandal gap Cervical segmentation defect Widened distal phalanges Tombstone-shaped proximal phalanges Seizures Global developmental delay Tibial bowing Cervical kyphosis Facial asymmetry Long fingers Visual impairment Abnormal vertebral segmentation and fusion Cervical C2/C3 vertebral fusion Moderate hearing impairment Abnormality of limb bone morphology Decreased cervical spine mobility Mild conductive hearing impairment Limited neck range of motion Cervicomedullary schisis Patent ductus arteriosus Posterior fossa cyst Agenesis of corpus callosum High forehead Retrognathia Prominent nasal bridge Iris coloboma Choanal atresia Cupped ear Broad neck Congenital muscular torticollis Bimanual synkinesia Central apnea Intestinal malrotation Small face Hand clenching Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Conductive hearing impairment Microtia Aplasia/Hypoplasia of the fallopian tube Webbed neck Stiff neck Otitis media Low posterior hairline Abnormality of the genitourinary system Relative macrocephaly Mixed hearing impairment Sprengel anomaly External ear malformation Fused cervical vertebrae Depressed nasal bridge Synophrys Aplasia of the vagina Pericardial effusion Abnormality of the kidney Abdominal distention Postaxial hand polydactyly Encephalocele Renal dysplasia Polycystic kidney dysplasia Anophthalmia Occipital encephalocele Polydactyly Enlarged kidney Hyperechogenic kidneys Equinovarus deformity Ptosis Flexion contracture Syndactyly Camptodactyly Cleft lip Short nose Arthrogryposis multiplex congenita Kyphosis Edema Proptosis Ichthyosis Sloping forehead Decreased fetal movement Abnormal cortical gyration Myopia Glaucoma Coxa vara Platyspondyly Micromelia Flat face Retinal detachment Limitation of joint mobility Osteoarthritis Abnormality of epiphysis morphology Craniosynostosis Elbow flexion contracture Facial hirsutism Acne Protruding ear Thick eyebrow Hirsutism Renal agenesis Amenorrhea Primary amenorrhea Cubitus valgus Hypoplasia of the uterus Brachydactyly High anterior hairline Abnormality of the ovary Shield chest Aplasia of the uterus Abnormal vagina morphology Frontal balding Increased serum testosterone level Obesity Posterior rib fusion Knee flexion contracture Spondylolisthesis Hemivertebrae Cutaneous syndactyly Abnormal palate morphology Pterygium Nasal speech Hip contracture Distal arthrogryposis Multiple pterygia Abnormal sacrum morphology Wide nasal bridge Anteverted nares Recurrent respiratory infections Upslanted palpebral fissure Spina bifida occulta Vertebral segmentation defect Missing ribs Abnormality of female internal genitalia Optic nerve coloboma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Headache, related diseases and genetic alterations Myopathy and Hypoplasia of the corpus callosum, related diseases and genetic alterations High palate and Triangular face, related diseases and genetic alterations Low-set ears and Hypodontia, related diseases and genetic alterations Ptosis and Scarring, related diseases and genetic alterations

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