Cleft palate, and Pulmonary hypoplasia

Diseases related with Cleft palate and Pulmonary hypoplasia

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

Top matches:

Related symptoms:

  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Polydactyly
  • Cleft lip


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 6; MKS6

Medium match SERKAL SYNDROME

SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

SERKAL SYNDROME Is also known as serkal syndrome|sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Related symptoms:

  • Growth delay
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SERKAL SYNDROME

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

Other less relevant matches:

Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.

ATELOSTEOGENESIS TYPE II Is also known as ao2|de la chapelle dysplasia|atelosteogenesis type 2|neonatal osseous dysplasia i|neonatal osseous dysplasia type 1|aoii

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE II

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

Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Hereditary Primary LymphedemaPrimary lymphedema is genetically heterogeneous: see also LMPH1B (OMIM ), which maps to chromosome 6q16.2-q22.1; LMPH1C (OMIM ), caused by mutation in the GJC2 gene (OMIM ) on chromosome 1q42; and LMPH1D (OMIM ), caused by mutation in the VEGFC gene (OMIM ) on chromosome 4q34. Hereditary lymphedema III (LMPH3 ) is caused by mutaiton in the PIEZO1 gene (OMIM ) on chromosome 16q24.Also see hereditary lymphedema type II (OMIM ), also known as Meige lymphedema.Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (OMIM ), which is caused by mutation in the FOXC2 gene (OMIM ).

LYMPHEDEMA, HEREDITARY, IA; LMPH1A Is also known as primary congenital lymphedema|pcl|nonne-milroy lymphedema|lymphedema, early-onset|milroy disease

Related symptoms:

  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, IA; LMPH1A

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Top 5 symptoms//phenotypes associated to Cleft palate and Pulmonary hypoplasia

Symptoms // Phenotype % cases
Micrognathia Uncommon - Between 30% and 50% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Micromelia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Cleft lip Retrognathia Atrial septal defect Abnormal facial shape Thoracic hypoplasia Respiratory insufficiency Congenital diaphragmatic hernia Abnormality of cardiovascular system morphology Narrow chest Cryptorchidism Oral cleft Ventricular septal defect

Rare Symptoms - Less than 30% cases

Upper limb undergrowth Depressed nasal ridge Posteriorly rotated ears Abnormal heart morphology Agenesis of corpus callosum Skeletal dysplasia Narrow mouth Scoliosis Talipes Hydrops fetalis Edema Short neck Polyhydramnios Wide nasal bridge Short ribs Bicornuate uterus Polydactyly Hernia Postaxial hand polydactyly Occipital encephalocele Anencephaly Severe short stature Generalized hypotonia Malar flattening Pulmonic stenosis Renal agenesis Oligohydramnios Micropenis Renal dysplasia Microglossia Unilateral renal agenesis Polycystic kidney dysplasia Tracheoesophageal fistula Abnormal intestine morphology Multicystic kidney dysplasia Abnormality of the genitourinary system Non-midline cleft lip Primary amenorrhea Breech presentation Glioma Renal hypoplasia Short nose Chorea Tetraparesis Short palpebral fissure Short chin Spastic tetraparesis Anophthalmia Hypoplastic left atrium Neoplasm Macrocephaly Hip dislocation Falls Hamartoma Median cleft lip Anterior hypopituitarism Hypothalamic hamartoma Hypertelorism Hypertension Epicanthus Proteinuria Abnormality of the kidney Vaginal atresia Fetal polyuria Abnormality of female internal genitalia Abnormality of the skeletal system Varicose veins Nonimmune hydrops fetalis Hypoproteinemia Distichiasis Abnormality of the amniotic fluid Chylous ascites Predominantly lower limb lymphedema Hypoplasia of lymphatic vessels Hyperkeratosis over edematous areas Hyporeflexia Edema of the lower limbs Abnormality of the pinna Coloboma Polymicrogyria Postaxial polydactyly Cerebellar vermis hypoplasia Preaxial polydactyly Molar tooth sign on MRI Thoracic dysplasia Retinal coloboma Aplastic clavicle Hydrocele testis Cellulitis Bilateral renal agenesis Strabismus Abnormal sacrum morphology Bilateral renal hypoplasia Nonketotic hypoglycemia Urogenital fistula Potter facies Urethral obstruction Sirenomelia Bilateral renal dysplasia Wide nose Ptosis Pleural effusion Arrhythmia Photophobia Paresthesia Ascites Nail dysplasia Tetralogy of Fallot Lymphedema Abnormality of the nail Conjunctivitis Hemangioma Broad nasal tip Flat acetabular roof Severe global developmental delay Abnormality of the outer ear Conductive hearing impairment Abnormality of the eye Anal atresia Hypoplasia of the maxilla Intestinal malrotation Hypotelorism Situs inversus totalis Holoprosencephaly Atresia of the external auditory canal Downslanted palpebral fissures Transposition of the great arteries Tracheomalacia Stenosis of the external auditory canal Hyperplasia of the maxilla Mandibular aplasia Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Proboscis Respiratory distress Hearing impairment Synotia Growth delay Cleft upper lip Renal cyst Encephalocele Hepatic fibrosis Hand polydactyly Bile duct proliferation Abnormal internal genitalia Cystic liver disease Intrauterine growth retardation Adrenal gland agenesis Hypospadias Pulmonary artery stenosis Sex reversal Abnormality of the adrenal glands Abnormality of the penis Ovotestis Hypoplasia of the bladder Bilateral lung agenesis Malrotation of small bowel Aglossia Inguinal hernia Sparse hair Horizontal sacrum Hypoplasia of the ulna Coronal cleft vertebrae Laryngeal stenosis Mesomelic short stature Aplasia/hypoplasia of the extremities Cervical kyphosis Tracheobronchomalacia Short sacroiliac notch Dumbbell-shaped femur Patent foramen ovale Intellectual disability Global developmental delay Spasticity Feeding difficulties Delayed speech and language development Dystonia Microphthalmia Brachycephaly Muscular hypotonia of the trunk Short middle phalanx of finger Sandal gap Umbilical hernia Abnormality of pelvic girdle bone morphology Joint stiffness Flat face Overgrowth Blue sclerae Abnormality of the metaphysis Bowing of the long bones Disproportionate short-limb short stature Short long bone Calvarial skull defect Lumbar hyperlordosis Abnormality of the abdominal wall Neonatal short-limb short stature Anisospondyly Kyphosis Midface retrusion Abnormality of metabolism/homeostasis Respiratory failure Hyperlordosis Platyspondyly Short upper lip


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and High myopia, related diseases and genetic alterations Congestive heart failure and Paraplegia, related diseases and genetic alterations Hydrocephalus and Nephritis, related diseases and genetic alterations Low-set ears and Neonatal hypotonia, related diseases and genetic alterations Micrognathia and Babinski sign, related diseases and genetic alterations Growth delay and Bulbous nose, related diseases and genetic alterations