Cleft palate, and Ambiguous genitalia

Diseases related with Cleft palate and Ambiguous genitalia

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


Top matches:

Low 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

Low match AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME


Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome|popliteal web syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Thin upper lip vermilion


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME

Low match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

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Other less relevant matches:

Low match DENYS-DRASH SYNDROME; DDS


DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Low match SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13


Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

Low match VAN DER WOUDE SYNDROME 1; VWS1


Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

Low match MECKEL SYNDROME


Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3


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, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 Is also known as srps2b|polydactyly with neonatal chondrodystrophy, type iii|verma-naumoff syndrome|asphyxiating thoracic dystrophy 3|short rib-polydactyly syndrome, type i|polydactyly with neonatal chondrodystrophy, type i|srps3|short rib-polydactyly syndrome, type iib|s

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Brachydactyly
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3

Low match OPITZ GBBB SYNDROME, TYPE I; GBBB1


The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Low match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Ambiguous genitalia

Symptoms // Phenotype % cases
Cleft lip Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Cleft upper lip Uncommon - Between 30% and 50% cases
Oral cleft Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Agenesis of corpus callosum Micrognathia Intellectual disability Postaxial polydactyly Scrotal hypoplasia Micropenis Choanal atresia Polydactyly Specific learning disability Abnormality of the genital system Syndactyly Thin upper lip vermilion Hypertelorism Anal atresia Hypospadias Congenital diaphragmatic hernia Abnormality of cardiovascular system morphology Microphthalmia Low-set ears

Rare Symptoms - Less than 30% cases


Microcephaly Severe short stature Micromelia Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Patent ductus arteriosus Intestinal malrotation Hypodontia Respiratory distress Short ribs Hernia Preaxial polydactyly Horizontal ribs True hermaphroditism Dandy-Walker malformation Bifid tongue Limb undergrowth Thoracic dysplasia Abnormality of the nasopharynx Anteverted nares Encephalocele Bowing of the long bones Renal dysplasia Male pseudohermaphroditism Thoracic hypoplasia Midface retrusion Growth delay Joint stiffness Ankyloblepharon Finger syndactyly Toe syndactyly Hydrocephalus Abnormality of the ribs Split hand Abnormality of the nail Generalized hirsutism Depressed nasal ridge Bifid scrotum Non-midline cleft lip Hypoplastic labia majora Oligohydramnios Anophthalmia Renal agenesis Intrauterine growth retardation Fibrous syngnathia Brachydactyly Wide nasal bridge Pulmonary hypoplasia Ventricular septal defect Lip pit Nonketotic hyperglycinemia Popliteal pterygium Short stature High palate Urethral atresia Downslanted palpebral fissures Pneumonia Sensorineural hearing impairment Epicanthus Abnormal chorioretinal morphology Pectus excavatum Ureteral duplication Aplasia/Hypoplasia of the iris Frontal bossing Accessory spleen Dysphagia Aplasia/Hypoplasia of the tongue Pancreatic cysts Abnormal heart morphology Talipes equinovarus Cerebellar cyst Pancreatic fibrosis Metaphyseal irregularity Cystic liver disease Lobar holoprosencephaly Prominent forehead Flat face Small hand Polycystic kidney dysplasia Hand polydactyly Metaphyseal widening Cone-shaped epiphysis Hypoplasia of the ulna Global developmental delay Femoral bowing Metaphyseal dysplasia Transposition of the great arteries Fibular hypoplasia Enlarged kidney Lateral clavicle hook Absent tibia Hamartoma of tongue Acetabular spurs Metaphyseal spurs Posteriorly rotated ears Intestinal lymphangiectasia Gastroesophageal reflux Hamartoma Asthma Ectodermal dysplasia Premature birth Growth hormone deficiency Tetralogy of Fallot Hypotelorism Hypoplasia of penis Hemangioma EMG: myopathic abnormalities Anosmia Tented upper lip vermilion Precocious puberty Narrow nasal bridge Median cleft lip Short philtrum Maternal diabetes Duodenal atresia Abnormality of chromosome segregation Hyposmia Panhypopituitarism Nasal obstruction Single median maxillary incisor Cyclopia Semilobar holoprosencephaly Hypothalamic hamartoma Torus palatinus Single naris Prominent median palatal raphe Pyriform aperture stenosis Iris coloboma Coloboma Telecanthus Widow's peak Pectus carinatum Smooth philtrum Recurrent urinary tract infections Large fontanelles Aspiration Abnormality of the voice Increased number of teeth Prominent metopic ridge Double outlet right ventricle Bilateral cleft lip Aspiration pneumonia Bilateral cleft lip and palate Hydrocele testis Pulmonary artery atresia Hypothyroidism Volvulus Abnormality of the pharynx Chylothorax Right aortic arch Furrowed tongue Bladder exstrophy Recurrent aspiration pneumonia Exstrophy Osteoma Posterior pharyngeal cleft Seizures Strabismus Intellectual disability, mild Short nose Congenital hepatic fibrosis Cleft soft palate Asplenia Abdominal distention Fever Edema Renal insufficiency Recurrent infections Weight loss Proteinuria Abnormality of the kidney Pallor Lethargy Stage 5 chronic kidney disease Nephropathy Amenorrhea Neoplasm Nephrotic syndrome Primary amenorrhea Glomerulosclerosis Glomerulonephritis Nephroblastoma Focal segmental glomerulosclerosis Glomerulopathy Gonadal dysgenesis Aniridia Gonadoblastoma Abnormal renal physiology Ambiguous genitalia, male Hypertension Nystagmus Ambiguous genitalia, female Abnormality of the skeletal system Pulmonic stenosis 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 Adrenal gland agenesis Abnormal facial shape Ventriculomegaly Hearing impairment Malar flattening Deeply set eye Abnormality of the pinna Wide intermamillary distance Sandal gap Adrenal hypoplasia Depressed nasal tip Barrel-shaped chest Shield chest Ulnar deviation of the hand Microphallus Ulnar deviation of the hand or of fingers of the hand Diffuse mesangial sclerosis Uterus didelphys Sclerocornea Intercrural pterygium Flexion contracture Feeding difficulties Difficulty walking Neurological speech impairment Falls Bifid uvula Otitis media Cerebral palsy Pterygium Ankyloglossia Lower lip pit Cataract Hypoplastic facial bones Optic atrophy Low-set, posteriorly rotated ears Talipes Microcornea Full cheeks Postaxial hand polydactyly Sloping forehead Situs inversus totalis Multicystic kidney dysplasia Preaxial hand polydactyly Anencephaly Postaxial foot polydactyly Unicoronal synostosis Squared iliac bones Low-grade fever Prominent nose Streak ovary Anuria Ovarian gonadoblastoma Gonadal tissue inappropriate for external genitalia or chromosomal sex Cerebellar hypoplasia Respiratory failure Macrotia Skeletal dysplasia Coarse facial features Narrow chest Renal cyst Renal hypoplasia Lobulated tongue Cerebellar vermis hypoplasia Omphalocele Rhizomelia Spontaneous abortion Microretrognathia Relative macrocephaly Molar tooth sign on MRI Natal tooth Occipital encephalocele Bell-shaped thorax Flat acetabular roof Hypoplastic pelvis Midnasal stenosis



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