Abnormal facial shape, and Congenital diaphragmatic hernia

Diseases related with Abnormal facial shape and Congenital diaphragmatic hernia

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


Top matches:

Low 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

Low match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12


MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Low match SECKEL SYNDROME 9; SCKL9


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

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Other less relevant matches:

Low match LETHAL MULTIPLE PTERYGIUM SYNDROME


Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

Low match BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B


Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

Low match GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS


Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).

GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS Is also known as polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS

Low match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

Low match HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2


Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Low match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Hernia Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Posteriorly rotated ears Hypertelorism Low-set ears Feeding difficulties Generalized hypotonia Pulmonary hypoplasia Depressed nasal bridge Cleft palate Short stature Epicanthus Ventricular septal defect Brachycephaly Flexion contracture Microphthalmia Atrial septal defect Retrognathia Polyhydramnios Convex nasal ridge Strabismus High palate Myopia Telecanthus Hearing impairment Sensorineural hearing impairment Downslanted palpebral fissures Growth delay Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases


Short finger Bulbous nose Intrauterine growth retardation Talipes equinovarus Ventriculomegaly Hypermetropia Oligohydramnios Abnormal cardiac septum morphology Hyperactivity Iris coloboma Cortical gyral simplification Narrow palpebral fissure Optic atrophy Joint hypermobility Delayed myelination Abnormality of cardiovascular system morphology Joint laxity Long philtrum Seizures Microretrognathia Joint dislocation Short neck Coloboma Broad nasal tip Hydrocephalus Short chin Wide nasal bridge Midface retrusion Respiratory distress Macular hypoplasia Hepatic fibrosis Abnormality of the outer ear Short long bone Polycystic kidney dysplasia Multiple joint contractures Flared metaphysis Long palpebral fissure Aniridia Pointed chin Underdeveloped nasal alae Abnormal lung lobation Double outlet right ventricle Ulnar deviation of the hand Large fleshy ears Periportal fibrosis Visual impairment Cerebral visual impairment Hypertension Open mouth Bilateral sensorineural hearing impairment Sloping forehead Prominent nasal bridge Cone/cone-rod dystrophy Abnormality of the skeletal system Biventricular hypertrophy Arterial tortuosity Intussusception Multiple joint dislocation Prominence of the premaxilla Pulmonary artery aneurysm Generalized arterial tortuosity Facial hypotonia Pulmonary artery dilatation Abnormality of visual evoked potentials Smooth philtrum Anteverted nares Self-injurious behavior Focal impaired awareness seizure Thrombocytopenia Abnormal heart morphology Skeletal dysplasia Hydronephrosis Abnormality of the kidney Abnormal electroretinogram Downturned corners of mouth Focal-onset seizure Clinodactyly Short nose Heterotopia Cleft lip Pulmonary insufficiency Facial asymmetry Hepatic failure Constipation Intestinal malrotation Dandy-Walker malformation Microdontia Cholestasis Wide anterior fontanel Rod-cone dystrophy Cerebral atrophy Lissencephaly Behavioral abnormality Relative macrocephaly Communicating hydrocephalus Abnormal cortical gyration Blindness Brachydactyly Periventricular gray matter heterotopia Severe hydrocephalus Cerebellar hypoplasia Frontal bossing Astigmatism Ventricular hypertrophy Colpocephaly Upslanted palpebral fissure Short philtrum High forehead Highly arched eyebrow Thin upper lip vermilion Wide intermamillary distance Renal agenesis Tetralogy of Fallot Optic disc pallor Gastroesophageal reflux Narrow mouth Pulmonary arterial hypertension Spontaneous abortion Sandal gap Erythroderma Aplasia cutis congenita Ureteral duplication Mandibular prognathia Autism Motor delay Macrocephaly Narrow naris Premature atrial contractions Arterial stenosis Decreased fetal movement Hypoplastic left atrium Failure to thrive Immunodeficiency Recurrent respiratory infections Respiratory failure Protruding ear Small for gestational age Long face Asthma Ambiguous genitalia Hypertrichosis Anophthalmia Abnormal lung morphology Pachygyria Recurrent urinary tract infections Narrow face Multicystic kidney dysplasia Clitoral hypertrophy Scaphocephaly Recurrent lower respiratory tract infections Chronic lung disease Pulmonary artery hypoplasia Fever Bicornuate uterus Spastic tetraparesis Depressed nasal ridge Broad neck Anemia Malar flattening Microtia Bifid uvula Webbed neck Sparse and thin eyebrow Sparse eyebrow Mixed hearing impairment Macrocytic anemia Submucous cleft hard palate Severe sensorineural hearing impairment Granulocytopenia Short palpebral fissure Mandibulofacial dysostosis Cryptorchidism Spasticity Delayed speech and language development Dystonia Muscular hypotonia of the trunk Sparse hair Severe global developmental delay Wide nose Chorea Tetraparesis Edema Lymphedema Abnormality of the vasculature Proptosis Congenital ptosis Epicanthus inversus Unilateral ptosis Female infertility Abnormality of the breast Abnormal lacrimal duct morphology Dilatation Pectus excavatum Inguinal hernia Prominent forehead Abnormality of the pinna Hypoplasia of the uterus Scarring Arachnodactyly Recurrent fractures Overgrowth Bradycardia Spina bifida Cutis laxa Aortic aneurysm Emphysema Aortic root aneurysm Soft skin Increased circulating gonadotropin level Cupped ear Increased susceptibility to fractures Abnormal cervical curvature Pterygium Akinesia Vertebral fusion Cystic hygroma Thin ribs Malignant hyperthermia Meningocele Fetal akinesia sequence Multiple pterygia Hypoplastic heart Amyoplasia Nystagmus Premature ovarian insufficiency Ptosis Camptodactyly Blepharophimosis Synophrys Infertility Microcornea Amenorrhea Narrow forehead Primary amenorrhea Abnormality of the hair Holoprosencephaly Hypoglycemic seizures



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