Abnormal facial shape, and Anal atresia

Diseases related with Abnormal facial shape and Anal atresia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Anal atresia that can help you solving undiagnosed cases.


Top matches:

Medium match BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Hypothyroidism
  • High forehead
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

Medium match DIHYDROPYRIMIDINURIA


Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency|dph deficiency|dihydropyrimidinuria|dpys deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINURIA

Medium match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

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Other less relevant matches:

Medium match CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM


Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

Medium match CONGENITAL TUFTING ENTEROPATHY


Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

Medium 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

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 BLEPHARO-CHEILO-ODONTIC SYNDROME


Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2


Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 Is also known as glycosylphosphatidylinositol biosynthesis defect 6|gpibd6

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Anal atresia

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Anal atresia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Atrial septal defect Posteriorly rotated ears Conductive hearing impairment High palate Talipes equinovarus Growth delay Delayed speech and language development Hearing impairment Cleft lip Flat face

Rare Symptoms - Less than 30% cases


Long nose Small nail Carious teeth Upslanted palpebral fissure Abnormal heart morphology Agenesis of corpus callosum Abnormal cardiac septum morphology Narrow mouth Scoliosis Failure to thrive Neoplasm Intestinal malrotation Vertebral fusion Midface retrusion Short nose Microcephaly Ventricular septal defect Intractable diarrhea Generalized hypotonia Intrauterine growth retardation Abnormality of the eye Syndactyly Distichiasis Intellectual disability Seizures Ectropion of lower eyelids Overfolded helix Cutaneous syndactyly Short neck Conical tooth Diarrhea Choanal atresia Ectropion Cleft upper lip Reduced number of teeth Plagiocephaly Facial asymmetry Microtia High forehead Hypothyroidism Euryblepharon Median cleft palate Upper eyelid coloboma Velopharyngeal insufficiency Wide intermamillary distance Decreased cervical spine mobility Limited neck range of motion Cervical C2/C3 vertebral fusion Blindness Abnormality of the dentition Clinodactyly Abnormal vertebral segmentation and fusion Short sternum Aplasia of the ulna Renal hypoplasia/aplasia Low posterior hairline Webbed neck Postaxial polydactyly Finger syndactyly Abnormality of the pinna Abnormality of the kidney Polydactyly Abnormality of cardiovascular system morphology Spina bifida Hemiplegia/hemiparesis Congenital muscular torticollis Cognitive impairment Sensorineural hearing impairment Abnormality of the vertebral column Sprengel anomaly Abnormal cranial nerve morphology Ectopic anus Fused cervical vertebrae Abnormality of the ribs Abnormality of the shoulder Abnormal sacrum morphology Sparse hair Epidermoid cyst Oral cleft Full cheeks Peripheral pulmonary artery stenosis Anterior plagiocephaly Shortening of all distal phalanges of the fingers Perineal fistula Anemia Depressed nasal bridge Hydrocephalus Microphthalmia Micropenis Hydronephrosis Leukemia Renal hypoplasia Long palpebral fissure Cafe-au-lait spot Bone marrow hypocellularity Hypoplasia of the radius Tracheoesophageal fistula Absent thumb Esophageal atresia Chromosome breakage Depressed nasal tip Rectovaginal fistula Abnormality of chromosome stability Forearm undergrowth Anal stenosis Anonychia Hypodontia Asplenia Ectodermal dysplasia Opacification of the corneal stroma Oligodontia Abnormality of vision Bilateral cleft lip Abnormal eyelid morphology Myelomeningocele Bilateral cleft lip and palate High anterior hairline Abnormal hair quantity Unilateral cleft lip Meningoencephalocele Broad hallux Thyroid agenesis Dermoid cyst Multiple rows of eyelashes Ventriculomegaly Pulmonic stenosis Broad nasal tip Vesicoureteral reflux Generalized-onset seizure Aganglionic megacolon Tented upper lip vermilion Elevated alkaline phosphatase Widow's peak Secretory diarrhea Short columella Stenosis of the external auditory canal Hypoplasia of the maxilla Hypotelorism Situs inversus totalis Holoprosencephaly Abnormality of the outer ear Atresia of the external auditory canal Transposition of the great arteries Tracheomalacia Microglossia Hyperplasia of the maxilla Retrognathia Mandibular aplasia Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Proboscis Aglossia Synotia Flexion contracture Abnormality of the skeletal system Pectus excavatum Pulmonary hypoplasia Polyhydramnios Deeply set eye Metabolic acidosis Feeding difficulties Acidosis Feeding difficulties in infancy Abnormal pyramidal sign Lethargy Abnormality of the cerebral white matter Cirrhosis Short distal phalanx of finger Dyskinesia Brain atrophy Respiratory distress Hip dysplasia Cholestasis Short phalanx of finger Infantile spasms Excessive daytime somnolence Reduced consciousness/confusion Morphological abnormality of the pyramidal tract Extrapyramidal dyskinesia Reduced dihydropyrimidine dehydrogenase activity Downslanted palpebral fissures Constipation Joint laxity Broad neck Short philtrum Choanal stenosis Villous atrophy Trichorrhexis nodosa Vaginal fistula Cryptorchidism Cerebellar hypoplasia Brachycephaly Gastroesophageal reflux Craniosynostosis Narrow chest Celiac disease Talipes Hirsutism Underdeveloped nasal alae Wide anterior fontanel Generalized hirsutism Cupped ear Bilateral talipes equinovarus Long fingers Prominent metopic ridge Short clavicles Underdeveloped supraorbital ridges Abnormal intestine morphology Camptodactyly Cutis marmorata Broad forehead Arachnodactyly Coarctation of aorta Thin skin Abnormality of the genital system Dental crowding Pointed chin Finger clinodactyly Short chin Narrow nose Sloping forehead Soft skin Narrow maxilla Short stature Hyperactivity Arthritis Blepharophimosis Coloboma Small for gestational age Abdominal distention Sepsis Hypoplastic sacrum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Wide nose, related diseases and genetic alterations Lymphoma and Papule, related diseases and genetic alterations Skeletal muscle atrophy and High, narrow palate, related diseases and genetic alterations Pain and Nephropathy, related diseases and genetic alterations Strabismus and Sparse scalp hair, related diseases and genetic alterations

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