Cleft palate, and Polyhydramnios

Diseases related with Cleft palate and Polyhydramnios

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


Top matches:

Medium match BAMFORTH-LAZARUS SYNDROME


Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.

BAMFORTH-LAZARUS SYNDROME Is also known as bamforth syndrome|athyroidal hypothyroidism-spiky hair-cleft palate syndrome|bamforth-lazarus syndrome|hypothyroidism-cleft palate syndrome

Related symptoms:

  • Intellectual disability
  • Cleft palate
  • Hypothyroidism
  • Polyhydramnios
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BAMFORTH-LAZARUS SYNDROME

Medium match LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8


Lethal congenital contracture syndrome-8, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Flexion contracture
  • Respiratory distress
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8

Medium match LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7


Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Cleft palate
  • Flexion contracture
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7

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Other less relevant matches:

Medium match HYDROLETHALUS


Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

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

Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Medium match SCHNECKENBECKEN DYSPLASIA


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Medium match FOWLER SYNDROME


The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Medium match SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14


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 Polyhydramnios

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Agenesis of corpus callosum Uncommon - Between 30% and 50% cases
Decreased fetal movement Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arthrogryposis multiplex congenita Flexion contracture Hydrocephalus Akinesia Micromelia Pterygium Premature birth Seizures Retrognathia Areflexia Cryptorchidism

Rare Symptoms - Less than 30% cases


Pulmonary hypoplasia Anencephaly Macrocephaly Short neck Edema Respiratory insufficiency Short ribs Abnormal heart morphology Abnormality of the outer ear Skeletal muscle atrophy Atrial septal defect Fetal akinesia sequence Talipes equinovarus Paralysis Global developmental delay Muscle weakness Micropenis Intrauterine growth retardation Respiratory distress Narrow chest Distal arthrogryposis Facial diplegia Congenital contracture Oral-pharyngeal dysphagia Disproportionate short-limb short stature Ovoid vertebral bodies Abnormality of the metaphysis Abnormal form of the vertebral bodies Lymphedema Flat acetabular roof Metaphyseal irregularity Accelerated skeletal maturation Hypoplastic scapulae Fibular hypoplasia Spontaneous abortion Abnormality of the fingernails Hypoplastic toenails Intellectual disability Platyspondyly Hemihypertrophy Omphalocele Abnormality of the face Nephroblastoma Large for gestational age Abnormality of the ureter Enlarged kidney Neonatal hypoglycemia Nevus flammeus Diastasis recti Visceromegaly Dolichocephaly Rhabdomyosarcoma Abdominal wall defect Anterior creases of earlobe Hypoplastic ilia Auricular pit Brachydactyly Malar flattening Midface retrusion Severe short stature Skeletal dysplasia Embryonal neoplasm Visual impairment Diaphyseal thickening Polymicrogyria Severe hydrocephalus Depressed nasal bridge Abnormality of the skeletal system Hernia Hyporeflexia Polydactyly Cleft lip Abnormality of the pinna Coloboma Oral cleft Postaxial polydactyly Limb joint contracture Congenital diaphragmatic hernia Cerebellar vermis hypoplasia Hydrops fetalis Preaxial polydactyly Thoracic hypoplasia Molar tooth sign on MRI Upper limb undergrowth Thoracic dysplasia Retinal coloboma Aplastic clavicle Multiple pterygia Hydranencephaly Lateral clavicle hook Microcephaly Vertebral hypoplasia Hypoplastic vertebral bodies Anterior rib cupping Advanced ossification of carpal bones Severe hydrops fetalis Dumbbell-shaped long bone Unossified vertebral bodies Advanced tarsal ossification Increased fibular diameter Snail-like ilia Growth delay Cystic hygroma Macroglossia Ventriculomegaly Dilatation Abnormality of metabolism/homeostasis Cerebellar hypoplasia Dandy-Walker malformation Cerebral calcification Hypsarrhythmia Microretrognathia Lissencephaly Hypoplasia of the brainstem Overgrowth Nemaline bodies Facial asymmetry Anal atresia Tracheal atresia Gingival cleft Hearing impairment Abnormal facial shape Downslanted palpebral fissures Posteriorly rotated ears Narrow mouth Conductive hearing impairment Abnormality of the eye Hypoplasia of the maxilla Abnormality of the sense of smell Intestinal malrotation Hypotelorism Situs inversus totalis Holoprosencephaly Atresia of the external auditory canal Transposition of the great arteries Tracheomalacia Microglossia Stenosis of the external auditory canal Abnormality of the fallopian tube Unilateral cleft lip Mandibular aplasia Microphthalmia Hypothyroidism Choanal atresia Curly hair Congenital hypothyroidism Abnormal hair quantity Bilateral choanal atresia Thyroid agenesis Bifid epiglottis Knee flexion contracture Abnormality of cardiovascular system morphology Arrhinencephaly Deeply set eye Low-set, posteriorly rotated ears Bifid uvula Postaxial hand polydactyly Laryngomalacia Anophthalmia Absent septum pellucidum Submucous cleft hard palate Abnormality of the respiratory system Hyperplasia of the maxilla Hypoplasia of the epiglottis Autistic behavior Minicore myopathy Ophthalmoparesis Myopathic facies Spinal rigidity Centrally nucleated skeletal muscle fibers Malignant hyperthermia Type 1 muscle fiber predominance Skeletal myopathy Generalized limb muscle atrophy Stooped posture Neoplasm Congenital hip dislocation Delayed speech and language development Hepatomegaly Ventricular septal defect Splenomegaly Clinodactyly Inguinal hernia Umbilical hernia Hypoglycemia Abnormality of the kidney Limb-girdle muscular dystrophy Generalized muscle weakness Laryngeal hypoplasia Fatigue Alobar holoprosencephaly Proboscis Aglossia Synotia Scoliosis Cognitive impairment Feeding difficulties Motor delay Fever Cardiomyopathy Muscle cramps Myopathy Kyphoscoliosis Pes planus Neonatal hypotonia Proximal muscle weakness Hypertrophic cardiomyopathy Facial palsy Hip dislocation Muscular dystrophy Talipes Short upper lip



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Low-set ears and Short distal phalanx of finger, related diseases and genetic alterations Ptosis and Congenital diaphragmatic hernia, related diseases and genetic alterations Cardiomyopathy and Babinski sign, related diseases and genetic alterations Peripheral neuropathy and Coarse facial features, related diseases and genetic alterations Cleft palate and Polyneuropathy, related diseases and genetic alterations

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