Cleft palate, and Constipation

Diseases related with Cleft palate and Constipation

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


Top matches:

Medium match HOLOPROSENCEPHALY 2; HPE2


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

Medium match SEPTO-OPTIC DYSPLASIA SPECTRUM


Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

SEPTO-OPTIC DYSPLASIA SPECTRUM Is also known as sod|septo-optic dysplasia|de morsier syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SEPTO-OPTIC DYSPLASIA SPECTRUM

Medium match HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME


Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., {614080}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME Is also known as mabry syndrome|glycosylphosphatidylinositol biosynthesis defect 2|gpibd2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Medium match GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME


Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Medium match VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Medium match COFFIN-SIRIS SYNDROME 6; CSS6


Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Low match KBG SYNDROME


KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.

KBG SYNDROME Is also known as short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about KBG SYNDROME

Low match COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS


Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Low match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Midface retrusion

Common Symptoms - More than 50% cases


Short nose

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Muscular hypotonia Abnormal facial shape Strabismus Micrognathia Hearing impairment Abnormality of cardiovascular system morphology Brachydactyly Anxiety Cryptorchidism Short philtrum Growth delay Frontal bossing Malar flattening Scoliosis Wide nasal bridge Autism Gastroesophageal reflux Polyhydramnios Prominent nasal bridge Macrotia Clinodactyly Macrocephaly Low-set ears Aganglionic megacolon Ventricular septal defect Sparse scalp hair Talipes equinovarus Mandibular prognathia Thin upper lip vermilion Autistic behavior Attention deficit hyperactivity disorder Severe global developmental delay Deeply set eye Tapered finger Short neck Synophrys Brachycephaly Chronic constipation Sensorineural hearing impairment Feeding difficulties Delayed speech and language development Agenesis of corpus callosum Pneumonia Failure to thrive

Rare Symptoms - Less than 30% cases


Aggressive behavior Downslanted palpebral fissures Joint stiffness Recurrent urinary tract infections Pain Gait disturbance Intestinal pseudo-obstruction Peripheral neuropathy Vomiting Abdominal pain Long palpebral fissure Single transverse palmar crease Delayed puberty Tented upper lip vermilion Hip dysplasia Plagiocephaly Weight loss Ventriculomegaly Abdominal distention Hypoplasia of the corpus callosum Aspiration Long philtrum Pectus excavatum Clinodactyly of the 5th finger Prominent forehead Small hand Thick vermilion border Hyperactivity Thick eyebrow Hoarse voice Hypospadias Sparse hair Protruding ear Conductive hearing impairment Telecanthus Oligodontia Broad forehead Round face Megalocornea Narrow chest Low-set, posteriorly rotated ears Highly arched eyebrow Small nail Neurological speech impairment Optic nerve hypoplasia Sleep disturbance Obesity Fatigue Abnormality of the skeletal system Broad nasal tip Delayed skeletal maturation Median cleft lip and palate Skeletal dysplasia Diabetes insipidus Hypothyroidism Holoprosencephaly Short metacarpal Microcornea Flat occiput Coloboma Cleft lip Cerebellar hypoplasia Otitis media Ptosis Nystagmus Absent septum pellucidum Anterior pituitary agenesis Abnormality of the hand Atrial septal defect Inability to walk Short distal phalanx of finger Stereotypy Cleft upper lip Abnormality of the liver Hydronephrosis Upslanted palpebral fissure Posteriorly rotated ears Absent speech Intellectual disability, severe Coarse facial features Anterior pituitary hypoplasia Septo-optic dysplasia Cervical ribs Absence of secondary sex characteristics Concave nasal ridge Hypogonadism Mixed hearing impairment Short femoral neck Ascites Infertility Pituitary hypothyroidism Hypotension Polydactyly Decreased circulating ACTH level Growth hormone deficiency Short attention span Abnormality of the eye Ectopic posterior pituitary Osteoporosis of vertebrae Aplasia/Hypoplasia of the breasts Pituitary dwarfism Abnormal prolactin level Radial deviation of finger Moon facies Pulmonic stenosis Decreased cervical spine mobility Macroglossia Aspiration pneumonia Jaundice Hypogonadotrophic hypogonadism Macrodontia Amenorrhea Widely-spaced maxillary central incisors Vertebral arch anomaly Depressed nasal ridge Edema Recurrent ear infections Rib fusion Broad face Beaking of vertebral bodies Adrenal insufficiency Severe postnatal growth retardation Thoracic kyphosis Delayed cranial suture closure Decreased testicular size Hypoplastic left heart Abnormality of digit Osteopenia Patent ductus arteriosus Vertebral fusion Prolonged neonatal jaundice Hypoglycemia Hypopituitarism Abnormality of secondary sexual hair Elbow dislocation Ectopic anterior pituitary gland Thoracic platyspondyly Feeding difficulties in infancy EEG abnormality Pes planus Hyporeflexia Myopia Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Multiple joint dislocation Retinal detachment Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Toe syndactyly Decreased fetal movement Radial bowing Self-injurious behavior Abnormal tracheobronchial morphology Hyperacusis Delayed eruption of primary teeth Large face Abnormal localization of kidney Taurodontia Abnormality of the ureter Impaired pain sensation Chronic otitis media Hypertriglyceridemia Hand polydactyly Failure to thrive in infancy Precocious puberty Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Hypercholesterolemia Abnormal form of the vertebral bodies Open mouth Short femur Bell-shaped thorax Spasticity Hyperlordosis Limb undergrowth Premature birth Generalized myoclonic seizures Nausea Talipes Poor speech Generalized tonic-clonic seizures Respiratory tract infection Proptosis Encephalocele Respiratory failure Severe short stature Recurrent respiratory infections Depressivity Recurrent infections Respiratory distress Hyperreflexia Flexion contracture Lumbar hyperlordosis Rhizomelia Loss of speech Short metatarsal Short humerus Atonic seizures Progressive spasticity Tibial bowing Spondyloepiphyseal dysplasia Clubbing Oral-pharyngeal dysphagia Low anterior hairline Hyperkinesis Sinusitis Disproportionate short-limb short stature Drooling Abnormality of the outer ear Joint dislocation Absence seizures Recurrent pneumonia Muscle stiffness Meningitis Short long bone Hypoperistalsis Abnormal vertebral morphology Craniosynostosis Hypoplasia of the maxilla Everted lower lip vermilion Iris coloboma Polymicrogyria Bulbous nose Finger syndactyly Camptodactyly Specific learning disability Shortening of all distal phalanges of the fingers Delayed ossification of carpal bones Profound global developmental delay Thickened helices Abnormally large globe Anteriorly placed anus Wide intermamillary distance Sloping forehead Elevated alkaline phosphatase Bifid scrotum Skeletal muscle atrophy Fever Hypertension Corneal ulceration Corneal erosion Hypoplasia of the brainstem Sparse eyebrow Optic disc pallor Abnormality of the genitourinary system Pointed chin Progressive microcephaly Sparse and thin eyebrow Long eyelashes Pachygyria Blue sclerae Cupped ear Infantile muscular hypotonia Myopathy Submucous cleft hard palate Hypoplastic philtrum Proboscis Single ventricle Cyclopia Single median maxillary incisor Adrenal hypoplasia Narrow nasal bridge Aplasia of the nose Exotropia Hypotelorism Bifid uvula Astigmatism Microphthalmia Cataract Absent nasal septal cartilage Visual impairment Short toe Maternal diabetes Downturned corners of mouth Oral cleft Anal atresia Abnormality of the nervous system Hydrocephalus Abnormality of the hypothalamus-pituitary axis Esophageal atresia Dry skin Hemiplegia/hemiparesis Tracheoesophageal fistula Aplasia/Hypoplasia of the cerebellum Polydipsia Anosmia Hypohidrosis Hypoplasia of penis Dysphagia Diarrhea Hypoplasia of dental enamel Delayed eruption of teeth Deep philtrum Narrow palpebral fissure Finger clinodactyly Wormian bones Thick lower lip vermilion Dandy-Walker malformation Short foot Infantile spasms High, narrow palate Wide mouth Retrognathia Kyphoscoliosis High forehead Hernia Short middle phalanx of finger Arachnoid cyst Epicanthus Syndactyly Low posterior hairline Underdeveloped nasal alae Triangular face Smooth philtrum Intellectual disability, moderate Abnormal heart morphology Kyphosis High anterior hairline Intellectual disability, mild Abnormality of the dentition Testicular torsion Diaphragmatic eventration Periventricular leukomalacia Tics Large forehead Intrauterine growth retardation Motor delay Dilatation Pancreatitis Anonychia Malnutrition Intestinal obstruction Portal hypertension Hypoalbuminemia External ophthalmoplegia Horseshoe kidney Disproportionate tall stature Interphalangeal joint contracture of finger Overgrowth Intestinal malrotation Vesicoureteral reflux Arachnodactyly Ophthalmoplegia Umbilical hernia Hydroureter Hyperparathyroidism High palate Prune belly Megaduodenum Gastrointestinal obstruction Neuroma Barrett esophagus Urethral obstruction Megacystis Microcolon Episodic abdominal pain Pollakisuria Urinary retention Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Volvulus Achalasia Corticospinal tract hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Optic disc pallor, related diseases and genetic alterations Depressed nasal bridge and Finger syndactyly, related diseases and genetic alterations Skeletal muscle atrophy and Split hand, related diseases and genetic alterations Pain and Dysmetria, related diseases and genetic alterations

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